Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81933473A>T , CM000679.2:g.81933473A>T	GRCh38
NC_000017.10:g.79891349A>T , CM000679.1:g.79891349A>T	GRCh37
NC_000017.9:g.77484640A>T	NCBI36
NG_023032.1:g.8620T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.798-97T>A MANE Select	ENSP00000328858.8:n.798-97T>A
ENST00000329875.12:c.798-97T>A	ENSP00000328858.8:n.798-97T>A
ENST00000337943.9:c.798-97T>A	ENSP00000336579.5:n.798-97T>A
ENST00000402252.6:c.879-97T>A	ENSP00000384949.2:n.879-97T>A
ENST00000403172.8:c.705-97T>A	ENSP00000385483.4:n.705-97T>A
ENST00000577756.5:c.634-97T>A	ENSP00000463352.1:n.634-97T>A
ENST00000582198.5:c.708-97T>A	ENSP00000463226.1:n.708-97T>A
ENST00000584848.5:c.502-97T>A	ENSP00000463342.1:n.502-97T>A
ENST00000619204.4:c.798-97T>A	ENSP00000479793.1:n.798-97T>A
ENST00000629768.2:c.634-97T>A	ENSP00000485679.1:n.634-97T>A
NM_001282279.1:c.705-97T>A	NP_001269208.1:n.705-97T>A
NM_001282280.1:c.798-97T>A	NP_001269209.1:n.798-97T>A
NM_001282281.1:c.879-97T>A	NP_001269210.1:n.879-97T>A
NM_006907.3:c.798-97T>A	NP_008838.2:n.798-97T>A
NM_153824.2:c.798-97T>A	NP_722546.1:n.798-97T>A
XM_005256381.1:c.798-97T>A	XP_005256438.1:n.798-97T>A
XM_011523583.1:c.798-97T>A	XP_011521885.1:n.798-97T>A
XM_011523584.1:c.798-97T>A	XP_011521886.1:n.798-97T>A
XM_011523585.1:c.715-97T>A	XP_011521887.1:n.715-97T>A
NM_001330523.1:c.634-97T>A	NP_001317452.1:n.634-97T>A
XM_005256381.2:c.798-97T>A	XP_005256438.1:n.798-97T>A
XM_011523583.2:c.798-97T>A	XP_011521885.1:n.798-97T>A
XM_011523584.3:c.798-97T>A	XP_011521886.1:n.798-97T>A
XM_011523585.2:c.715-97T>A	XP_011521887.1:n.715-97T>A
XM_024450849.1:c.798-97T>A	XP_024306617.1:n.798-97T>A
NM_001282279.2:c.705-97T>A	NP_001269208.1:n.705-97T>A
NM_001282281.2:c.879-97T>A	NP_001269210.1:n.879-97T>A
NM_006907.4:c.798-97T>A MANE Select	NP_008838.2:n.798-97T>A
NM_153824.3:c.798-97T>A	NP_722546.1:n.798-97T>A
NM_001282280.2:c.798-97T>A	NP_001269209.1:n.798-97T>A
NM_001330523.2:c.634-97T>A	NP_001317452.1:n.634-97T>A