Canonical Allele Identifier: CA385040487

Gene: AAAS

Linked Data

• dbSNP Id: rs1363728096
• gnomAD v2: 12-53702550-C-T
• gnomAD v3: 12-53308766-C-T
• gnomAD v4: 12-53308766-C-T
• MyVariant Identifiers: chr12:g.53702550C>T (hg19) ; chr12:g.53308766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308766C>T , CM000674.2:g.53308766C>T	GRCh38
NC_000012.11:g.53702550C>T , CM000674.1:g.53702550C>T	GRCh37
NC_000012.10:g.51988817C>T	NCBI36
NG_016775.1:g.17863G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1046G>A MANE Select	ENSP00000209873.4:p.Gly349Glu
ENST00000546562.6:n.2110G>A
ENST00000547238.6:n.1682G>A
ENST00000547520.6:n.1040G>A
ENST00000547757.2:c.95G>A	ENSP00000448020.2:p.Gly32Glu
ENST00000548880.2:n.1496G>A
ENST00000548931.6:c.566G>A	ENSP00000457518.1:p.Gly189Glu
ENST00000549450.6:n.980G>A
ENST00000552161.6:n.2002G>A
ENST00000672797.1:n.1535G>A
ENST00000672900.1:n.1988G>A
ENST00000209873.8:c.1046G>A	ENSP00000209873.4:p.Gly349Glu
ENST00000394384.7:c.947G>A	ENSP00000377908.3:p.Gly316Glu
ENST00000547520.5:n.750G>A
ENST00000548931.5:c.566G>A	ENSP00000457518.1:p.Gly189Glu
ENST00000550033.5:n.301G>A
ENST00000550286.5:c.674G>A	ENSP00000446885.1:p.Gly225Glu
ENST00000552876.5:n.1389G>A
NM_001173466.1:c.947G>A	NP_001166937.1:p.Gly316Glu
NM_015665.5:c.1046G>A	NP_056480.1:p.Gly349Glu
XM_006719617.2:c.1061G>A	XP_006719680.1:p.Gly354Glu
XM_006719619.2:c.*56G>A	XP_006719682.1:n.*56G>A
XM_011538777.1:c.1061G>A	XP_011537079.1:p.Gly354Glu
XM_011538778.1:c.1046G>A	XP_011537080.1:p.Gly349Glu
XM_011538779.1:c.962G>A	XP_011537081.1:p.Gly321Glu
XM_011538780.1:c.947G>A	XP_011537082.1:p.Gly316Glu
XM_011538781.1:c.395G>A	XP_011537083.1:p.Gly132Glu
XM_011538778.2:c.1046G>A	XP_011537080.1:p.Gly349Glu
XM_011538780.2:c.947G>A	XP_011537082.1:p.Gly316Glu
XR_001748875.2:n.1103G>A
NM_015665.6:c.1046G>A MANE Select	NP_056480.1:p.Gly349Glu
NM_001173466.2:c.947G>A	NP_001166937.1:p.Gly316Glu