Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.139800104C>T , CM000670.2:g.139800104C>T	GRCh38
NC_000008.10:g.140812347C>T , CM000670.1:g.140812347C>T	GRCh37
NC_000008.9:g.140881529C>T	NCBI36
NG_016478.2:g.663476G>A
NG_016478.3:g.663476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438773.4:c.3056-67902G>A MANE Select	ENSP00000405060.3:n.3056-67902G>A
ENST00000648948.2:c.3056-67902G>A	ENSP00000498020.1:n.3056-67902G>A
ENST00000389328.8:c.3350-67902G>A	ENSP00000373979.4:n.3350-67902G>A
ENST00000438773.2:c.3056-67902G>A	ENSP00000405060.2:n.3056-67902G>A
ENST00000519482.1:n.143-67902G>A
ENST00000520857.5:c.2586-67902G>A
ENST00000521667.5:n.1461-67902G>A
ENST00000521700.5:n.101+6029G>A
ENST00000522504.5:n.209-67902G>A
ENST00000523777.5:n.665-67902G>A
ENST00000524162.5:n.482-67902G>A
NM_001160372.2:c.3056-67902G>A	NP_001153844.1:n.3056-67902G>A
NM_031466.6:c.3350-67902G>A	NP_113654.4:n.3350-67902G>A
XM_005251077.3:c.3056-67902G>A	XP_005251134.1:n.3056-67902G>A
XM_011517326.1:c.3323-67902G>A	XP_011515628.1:n.3323-67902G>A
XM_011517329.1:c.2444-67902G>A	XP_011515631.1:n.2444-67902G>A
XM_011517330.1:c.1505-67902G>A	XP_011515632.1:n.1505-67902G>A
NM_001160372.3:c.3056-67902G>A	NP_001153844.1:n.3056-67902G>A
NM_001321646.1:c.3029-67902G>A	NP_001308575.1:n.3029-67902G>A
NM_031466.7:c.3350-67902G>A	NP_113654.4:n.3350-67902G>A
XM_011517326.2:c.3323-67902G>A	XP_011515628.1:n.3323-67902G>A
XM_011517330.2:c.1505-67902G>A	XP_011515632.1:n.1505-67902G>A
XM_017013894.2:c.1676-67902G>A	XP_016869383.1:n.1676-67902G>A
XR_928355.2:n.3420-67902G>A
NM_001160372.4:c.3056-67902G>A MANE Select	NP_001153844.1:n.3056-67902G>A
NM_001321646.2:c.3029-67902G>A	NP_001308575.1:n.3029-67902G>A
NM_001374682.1:c.3077-67902G>A	NP_001361611.1:n.3077-67902G>A
NM_001374683.1:c.2945-67902G>A	NP_001361612.1:n.2945-67902G>A
NM_001374684.1:c.2912-67902G>A	NP_001361613.1:n.2912-67902G>A
NM_031466.8:c.3056-67902G>A	NP_113654.5:n.3056-67902G>A
NR_164662.1:n.3217+6029G>A

Linked Data

Genomic Alleles

Transcript Alleles