Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1978901G>A , CM000666.2:g.1978901G>A	GRCh38
NC_000004.11:g.1980628G>A , CM000666.1:g.1980628G>A	GRCh37
NC_000004.10:g.1950426G>A	NCBI36
NG_009269.1:g.112506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508803.6:c.4090G>A MANE Select	ENSP00000423972.1:p.Gly1364Ser
ENST00000677559.1:c.*1856G>A	ENSP00000504406.1:n.*1856G>A
ENST00000677895.1:c.802G>A	ENSP00000503076.1:p.Gly268Ser
ENST00000679039.1:n.1280G>A
ENST00000312087.10:c.*2373G>A	ENSP00000308780.6:n.*2373G>A
ENST00000353275.9:c.*2240G>A	ENSP00000329167.5:n.*2240G>A
ENST00000382888.3:c.2134G>A	ENSP00000372344.3:p.Gly712Ser
ENST00000382891.9:c.4090G>A	ENSP00000372347.5:p.Gly1364Ser
ENST00000382892.6:c.4090G>A	ENSP00000372348.2:p.Gly1364Ser
ENST00000382895.7:c.4090G>A	ENSP00000372351.3:p.Gly1364Ser
ENST00000482415.6:n.2707G>A
ENST00000508299.1:n.591G>A
ENST00000508803.5:c.4090G>A	ENSP00000423972.1:p.Gly1364Ser
NM_001042424.2:c.4090G>A	NP_001035889.1:p.Gly1364Ser
NM_133330.2:c.4090G>A	NP_579877.1:p.Gly1364Ser
NM_133331.2:c.4090G>A	NP_579878.1:p.Gly1364Ser
NM_133335.3:c.4090G>A	NP_579890.1:p.Gly1364Ser
XM_005248001.3:c.4090G>A	XP_005248058.1:p.Gly1364Ser
XM_005248002.1:c.3883G>A	XP_005248059.1:p.Gly1295Ser
XM_006713915.2:c.1747G>A	XP_006713978.1:p.Gly583Ser
XM_011513557.1:c.4090G>A	XP_011511859.1:p.Gly1364Ser
XM_011513558.1:c.4090G>A	XP_011511860.1:p.Gly1364Ser
XM_011513559.1:c.2134G>A	XP_011511861.1:p.Gly712Ser
XM_011513560.1:c.1747G>A	XP_011511862.1:p.Gly583Ser
XM_005248001.4:c.4090G>A	XP_005248058.1:p.Gly1364Ser
XM_005248002.3:c.3883G>A	XP_005248059.1:p.Gly1295Ser
XM_011513557.2:c.4090G>A	XP_011511859.1:p.Gly1364Ser
XM_011513560.2:c.1747G>A	XP_011511862.1:p.Gly583Ser
XM_017008587.1:c.1747G>A	XP_016864076.1:p.Gly583Ser
XM_017008588.1:c.1747G>A	XP_016864077.1:p.Gly583Ser
NM_001042424.3:c.4090G>A MANE Select	NP_001035889.1:p.Gly1364Ser
NM_133330.3:c.4090G>A	NP_579877.1:p.Gly1364Ser
NM_133331.3:c.4090G>A	NP_579878.1:p.Gly1364Ser
NM_133335.4:c.4090G>A	NP_579890.1:p.Gly1364Ser