Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.146102914C>T , CM000665.2:g.146102914C>T	GRCh38
NC_000003.11:g.145820701C>T , CM000665.1:g.145820701C>T	GRCh37
NC_000003.10:g.147303391C>T	NCBI36
NG_009251.1:g.63582G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_182943.3:c.680-62G>A MANE Select	NP_891988.1:n.680-62G>A
ENST00000282903.10:c.680-62G>A MANE Select	ENSP00000282903.5:n.680-62G>A
NM_000935.2:c.680-62G>A	NP_000926.2:n.680-62G>A
NM_000935.3:c.680-62G>A	NP_000926.2:n.680-62G>A
NM_182943.2:c.680-62G>A	NP_891988.1:n.680-62G>A
ENST00000282903.9:c.680-62G>A	ENSP00000282903.5:n.680-62G>A
ENST00000360060.7:c.680-62G>A	ENSP00000353170.3:n.680-62G>A
ENST00000469350.5:c.596-62G>A	ENSP00000419963.1:n.596-62G>A
ENST00000469350.6:c.596-62G>A	ENSP00000419963.2:n.596-62G>A
ENST00000480704.2:c.*444-62G>A	ENSP00000419880.1:n.*444-62G>A
ENST00000494950.5:c.515-62G>A	ENSP00000420094.1:n.515-62G>A
ENST00000703517.1:n.482-62G>A
ENST00000703518.1:c.680-62G>A	ENSP00000515350.1:n.680-62G>A
ENST00000703519.1:n.697-62G>A
ENST00000703520.1:c.680-62G>A	ENSP00000515351.1:n.680-62G>A
ENST00000703521.1:c.680-62G>A	ENSP00000515352.1:n.680-62G>A
ENST00000703522.1:c.680-62G>A	ENSP00000515353.1:n.680-62G>A
ENST00000703523.1:c.680-62G>A	ENSP00000515354.1:n.680-62G>A
ENST00000703524.1:n.203-62G>A
ENST00000703525.1:n.875-62G>A
ENST00000703527.1:c.680-62G>A	ENSP00000515355.1:n.680-62G>A
ENST00000703528.1:c.515-62G>A	ENSP00000515356.1:n.515-62G>A
ENST00000703529.1:n.875-62G>A
ENST00000706626.1:c.680-62G>A	ENSP00000516472.1:n.680-62G>A
ENST00000706627.1:n.875-62G>A
ENST00000706634.1:n.875-62G>A
ENST00000706635.1:c.680-62G>A	ENSP00000516475.1:n.680-62G>A
ENST00000706636.1:c.680-62G>A	ENSP00000516476.1:n.680-62G>A
XM_005247535.3:c.404-62G>A	XP_005247592.1:n.404-62G>A
XM_005247535.4:c.404-62G>A	XP_005247592.1:n.404-62G>A
XM_005247536.3:c.680-62G>A	XP_005247593.1:n.680-62G>A
XM_017006625.2:c.404-62G>A	XP_016862114.1:n.404-62G>A
XM_024453599.1:c.404-62G>A	XP_024309367.1:n.404-62G>A
XR_001740176.2:n.875-62G>A