Canonical Allele Identifier: CA6598805

Gene: AAAS

Linked Data

• dbSNP Id: rs781074971
• ExAC: 12:53701394 C / T
• gnomAD v2: 12-53701394-C-T
• gnomAD v3: 12-53307610-C-T
• gnomAD v4: 12-53307610-C-T
• MyVariant Identifiers: chr12:g.53701394C>T (hg19) ; chr12:g.53307610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307610C>T , CM000674.2:g.53307610C>T	GRCh38
NC_000012.11:g.53701394C>T , CM000674.1:g.53701394C>T	GRCh37
NC_000012.10:g.51987661C>T	NCBI36
NG_016775.1:g.19019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1520G>A MANE Select	ENSP00000209873.4:p.Gly507Glu
ENST00000546562.6:n.2584G>A
ENST00000547238.6:n.2156G>A
ENST00000547520.6:n.1636G>A
ENST00000547757.2:c.*438G>A	ENSP00000448020.2:n.*438G>A
ENST00000548931.6:c.955G>A	ENSP00000457518.1:p.Gly319Arg
ENST00000549450.6:n.1454G>A
ENST00000672797.1:n.2009G>A
ENST00000209873.8:c.1520G>A	ENSP00000209873.4:p.Gly507Glu
ENST00000394384.7:c.1421G>A	ENSP00000377908.3:p.Gly474Glu
ENST00000548931.5:c.955G>A	ENSP00000457518.1:p.Gly319Arg
ENST00000550286.5:c.1148G>A	ENSP00000446885.1:p.Gly383Glu
ENST00000552876.5:n.1863G>A
NM_001173466.1:c.1421G>A	NP_001166937.1:p.Gly474Glu
NM_015665.5:c.1520G>A	NP_056480.1:p.Gly507Glu
XM_006719617.2:c.1535G>A	XP_006719680.1:p.Gly512Glu
XM_011538777.1:c.1577G>A	XP_011537079.1:p.Gly526Glu
XM_011538778.1:c.1562G>A	XP_011537080.1:p.Gly521Glu
XM_011538779.1:c.1478G>A	XP_011537081.1:p.Gly493Glu
XM_011538780.1:c.1463G>A	XP_011537082.1:p.Gly488Glu
XM_011538781.1:c.911G>A	XP_011537083.1:p.Gly304Glu
XM_011538778.2:c.1562G>A	XP_011537080.1:p.Gly521Glu
XM_011538780.2:c.1463G>A	XP_011537082.1:p.Gly488Glu
XR_001748875.2:n.1577G>A
NM_015665.6:c.1520G>A MANE Select	NP_056480.1:p.Gly507Glu
NM_001173466.2:c.1421G>A	NP_001166937.1:p.Gly474Glu