Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396833A>T , CM000673.2:g.17396833A>T	GRCh38
NC_000011.9:g.17418380A>T , CM000673.1:g.17418380A>T	GRCh37
NC_000011.8:g.17374956A>T	NCBI36
NG_008867.1:g.85070T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3720+83T>A
ENST00000528374.2:c.710+83T>A
ENST00000529967.6:n.2458+83T>A
ENST00000532220.2:n.2450T>A
ENST00000642611.2:n.4417T>A
ENST00000644057.2:n.562+83T>A
ENST00000645004.2:n.1618+83T>A
ENST00000682051.1:n.4281+83T>A
ENST00000682110.1:n.4334+83T>A
ENST00000682140.1:c.3985+360T>A	ENSP00000507829.1:n.3985+360T>A
ENST00000682185.1:n.5424+83T>A
ENST00000682204.1:c.*2257+83T>A	ENSP00000507094.1:n.*2257+83T>A
ENST00000682215.1:n.4701+83T>A
ENST00000682288.1:c.*2550+83T>A	ENSP00000507506.1:n.*2550+83T>A
ENST00000682442.1:n.4554+83T>A
ENST00000682528.1:n.4411+83T>A
ENST00000682673.1:n.4278+83T>A
ENST00000682805.1:n.4739+45T>A
ENST00000682965.1:c.*541+83T>A	ENSP00000508229.1:n.*541+83T>A
ENST00000683093.1:n.4516T>A
ENST00000683136.1:c.4002+83T>A	ENSP00000507768.1:n.4002+83T>A
ENST00000683153.1:n.4376+83T>A
ENST00000683365.1:n.4436+83T>A
ENST00000683377.1:n.4334+83T>A
ENST00000683456.1:c.*1256+83T>A	ENSP00000508318.1:n.*1256+83T>A
ENST00000683522.1:n.4334+83T>A
ENST00000683562.1:c.*2288+83T>A	ENSP00000508265.1:n.*2288+83T>A
ENST00000683693.1:n.4864T>A
ENST00000683725.1:c.4119+83T>A	ENSP00000507496.1:n.4119+83T>A
ENST00000684010.1:n.4329+83T>A
ENST00000684157.1:n.4417T>A
ENST00000684253.1:n.4237+83T>A
ENST00000684288.1:c.*2291+83T>A	ENSP00000507143.1:n.*2291+83T>A
ENST00000684313.1:n.3766+83T>A
ENST00000684332.1:n.4407+83T>A
ENST00000684371.1:n.4440+83T>A
ENST00000684404.1:n.4460T>A
ENST00000684442.1:n.4558+83T>A
ENST00000684555.1:c.*2331+83T>A	ENSP00000507705.1:n.*2331+83T>A
ENST00000684571.1:c.3960+83T>A	ENSP00000506935.1:n.3960+83T>A
ENST00000684593.1:c.*3824+83T>A	ENSP00000507005.1:n.*3824+83T>A
ENST00000684711.1:c.*2515+83T>A	ENSP00000506841.1:n.*2515+83T>A
ENST00000302539.9:c.4122+83T>A	ENSP00000303960.4:n.4122+83T>A
ENST00000389817.8:c.4119+83T>A MANE Select	ENSP00000374467.4:n.4119+83T>A
ENST00000642271.1:c.4116+83T>A	ENSP00000493749.1:n.4116+83T>A
ENST00000642579.1:c.2173+83T>A
ENST00000642611.1:n.4302T>A
ENST00000642902.1:c.3901+83T>A
ENST00000643260.1:c.4119+83T>A	ENSP00000494450.1:n.4119+83T>A
ENST00000643562.1:c.*2241+83T>A	ENSP00000496124.1:n.*2241+83T>A
ENST00000643925.1:c.2759+83T>A
ENST00000644057.1:n.196+83T>A
ENST00000644484.1:c.*2603T>A	ENSP00000493558.1:n.*2603T>A
ENST00000644675.1:c.*2291+83T>A	ENSP00000494567.1:n.*2291+83T>A
ENST00000644757.1:c.*2633T>A	ENSP00000495085.1:n.*2633T>A
ENST00000644772.1:c.4185+83T>A	ENSP00000494321.1:n.4185+83T>A
ENST00000645004.1:n.1812+45T>A
ENST00000645076.1:c.3318+83T>A
ENST00000645417.1:c.1307+83T>A
ENST00000645744.1:c.*2982T>A	ENSP00000494564.1:n.*2982T>A
ENST00000645760.1:c.4540+83T>A
ENST00000645884.1:c.*1402+83T>A	ENSP00000495516.1:n.*1402+83T>A
ENST00000646003.1:c.*2221+83T>A	ENSP00000495259.1:n.*2221+83T>A
ENST00000646207.1:c.*2956+83T>A	ENSP00000495025.1:n.*2956+83T>A
ENST00000646276.1:c.*2621T>A	ENSP00000496070.1:n.*2621T>A
ENST00000646592.1:c.3425+83T>A
ENST00000646902.1:c.4086+83T>A	ENSP00000494101.1:n.4086+83T>A
ENST00000646993.1:c.*2661+83T>A	ENSP00000493720.1:n.*2661+83T>A
ENST00000647013.1:c.4125+83T>A	ENSP00000496741.1:n.4125+83T>A
ENST00000647015.1:c.3870+83T>A	ENSP00000495389.1:n.3870+83T>A
ENST00000647086.1:c.*3705+83T>A	ENSP00000493677.1:n.*3705+83T>A
ENST00000647158.1:c.*2406+83T>A	ENSP00000495744.1:n.*2406+83T>A
ENST00000302539.8:c.4122+83T>A	ENSP00000303960.4:n.4122+83T>A
ENST00000389817.7:c.4119+83T>A	ENSP00000374467.3:n.4119+83T>A
ENST00000527905.5:c.*1224T>A	ENSP00000431653.1:n.*1224T>A
ENST00000528374.1:c.601+83T>A
ENST00000532220.1:n.593+83T>A
NM_000352.4:c.4119+83T>A	NP_000343.2:n.4119+83T>A
NM_001287174.1:c.4122+83T>A	NP_001274103.1:n.4122+83T>A
XM_011520331.1:c.4119+83T>A	XP_011518633.1:n.4119+83T>A
XM_011520332.1:c.4122+83T>A	XP_011518634.1:n.4122+83T>A
XM_011520333.1:c.2619+83T>A	XP_011518635.1:n.2619+83T>A
XR_930890.1:n.4185+83T>A
NM_001351295.1:c.4185+83T>A	NP_001338224.1:n.4185+83T>A
NM_001351296.1:c.4119+83T>A	NP_001338225.1:n.4119+83T>A
NM_001351297.1:c.4116+83T>A	NP_001338226.1:n.4116+83T>A
NR_147094.1:n.4414+83T>A
XM_017018197.2:c.4188+83T>A	XP_016873686.1:n.4188+83T>A
XM_017018199.1:c.4185+83T>A	XP_016873688.1:n.4185+83T>A
XM_017018201.2:c.4188+83T>A	XP_016873690.1:n.4188+83T>A
XM_017018202.1:c.2685+83T>A	XP_016873691.1:n.2685+83T>A
XM_017018204.1:c.2076+83T>A	XP_016873693.1:n.2076+83T>A
XM_024448668.1:c.2487+83T>A	XP_024304436.1:n.2487+83T>A
XR_001747945.2:n.4260+83T>A
XR_001747946.2:n.4191+83T>A
XR_002957189.1:n.4939T>A
NM_000352.6:c.4119+83T>A MANE Select	NP_000343.2:n.4119+83T>A
NM_001287174.2:c.4122+83T>A	NP_001274103.1:n.4122+83T>A
NM_001351295.2:c.4185+83T>A	NP_001338224.1:n.4185+83T>A
NM_001351296.2:c.4119+83T>A	NP_001338225.1:n.4119+83T>A
NM_001351297.2:c.4116+83T>A	NP_001338226.1:n.4116+83T>A
NR_147094.2:n.4414+83T>A
NM_001287174.3:c.4122+83T>A	NP_001274103.1:n.4122+83T>A