Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146104355A>T , CM000665.2:g.146104355A>T	GRCh38
NC_000003.11:g.145822142A>T , CM000665.1:g.145822142A>T	GRCh37
NC_000003.10:g.147304832A>T	NCBI36
NG_009251.1:g.62141T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_182943.3:c.616-13T>A MANE Select	NP_891988.1:n.616-13T>A
ENST00000282903.10:c.616-13T>A MANE Select	ENSP00000282903.5:n.616-13T>A
NM_000935.2:c.616-13T>A	NP_000926.2:n.616-13T>A
NM_000935.3:c.616-13T>A	NP_000926.2:n.616-13T>A
NM_182943.2:c.616-13T>A	NP_891988.1:n.616-13T>A
ENST00000282903.9:c.616-13T>A	ENSP00000282903.5:n.616-13T>A
ENST00000360060.7:c.616-13T>A	ENSP00000353170.3:n.616-13T>A
ENST00000469350.5:c.532-13T>A	ENSP00000419963.1:n.532-13T>A
ENST00000469350.6:c.532-13T>A	ENSP00000419963.2:n.532-13T>A
ENST00000480704.2:c.*380-13T>A	ENSP00000419880.1:n.*380-13T>A
ENST00000494950.5:c.451-13T>A	ENSP00000420094.1:n.451-13T>A
ENST00000703517.1:n.418-13T>A
ENST00000703518.1:c.616-13T>A	ENSP00000515350.1:n.616-13T>A
ENST00000703519.1:n.633-13T>A
ENST00000703520.1:c.616-13T>A	ENSP00000515351.1:n.616-13T>A
ENST00000703521.1:c.616-13T>A	ENSP00000515352.1:n.616-13T>A
ENST00000703522.1:c.616-13T>A	ENSP00000515353.1:n.616-13T>A
ENST00000703523.1:c.616-13T>A	ENSP00000515354.1:n.616-13T>A
ENST00000703524.1:n.139-13T>A
ENST00000703525.1:n.811-13T>A
ENST00000703527.1:c.616-13T>A	ENSP00000515355.1:n.616-13T>A
ENST00000703528.1:c.451-13T>A	ENSP00000515356.1:n.451-13T>A
ENST00000703529.1:n.811-13T>A
ENST00000706626.1:c.616-13T>A	ENSP00000516472.1:n.616-13T>A
ENST00000706627.1:n.811-13T>A
ENST00000706634.1:n.811-13T>A
ENST00000706635.1:c.616-13T>A	ENSP00000516475.1:n.616-13T>A
ENST00000706636.1:c.616-13T>A	ENSP00000516476.1:n.616-13T>A
XM_005247535.3:c.340-13T>A	XP_005247592.1:n.340-13T>A
XM_005247535.4:c.340-13T>A	XP_005247592.1:n.340-13T>A
XM_005247536.3:c.616-13T>A	XP_005247593.1:n.616-13T>A
XM_017006625.2:c.340-13T>A	XP_016862114.1:n.340-13T>A
XM_024453599.1:c.340-13T>A	XP_024309367.1:n.340-13T>A
XR_001740176.2:n.811-13T>A