Canonical Allele Identifier: CA385035235

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307603-T-G
• MyVariant Identifiers: chr12:g.53701387T>G (hg19) ; chr12:g.53307603T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307603T>G , CM000674.2:g.53307603T>G	GRCh38
NC_000012.11:g.53701387T>G , CM000674.1:g.53701387T>G	GRCh37
NC_000012.10:g.51987654T>G	NCBI36
NG_016775.1:g.19026A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1527A>C MANE Select	ENSP00000209873.4:p.Gly509=
ENST00000546562.6:n.2591A>C
ENST00000547238.6:n.2163A>C
ENST00000547520.6:n.1643A>C
ENST00000547757.2:c.*445A>C	ENSP00000448020.2:n.*445A>C
ENST00000548931.6:c.962A>C	ENSP00000457518.1:p.Glu321Ala
ENST00000549450.6:n.1461A>C
ENST00000672797.1:n.2016A>C
ENST00000209873.8:c.1527A>C	ENSP00000209873.4:p.Gly509=
ENST00000394384.7:c.1428A>C	ENSP00000377908.3:p.Gly476=
ENST00000548931.5:c.962A>C	ENSP00000457518.1:p.Glu321Ala
ENST00000550286.5:c.1155A>C	ENSP00000446885.1:p.Gly385=
ENST00000552876.5:n.1870A>C
NM_001173466.1:c.1428A>C	NP_001166937.1:p.Gly476=
NM_015665.5:c.1527A>C	NP_056480.1:p.Gly509=
XM_006719617.2:c.1542A>C	XP_006719680.1:p.Gly514=
XM_011538777.1:c.1584A>C	XP_011537079.1:p.Gly528=
XM_011538778.1:c.1569A>C	XP_011537080.1:p.Gly523=
XM_011538779.1:c.1485A>C	XP_011537081.1:p.Gly495=
XM_011538780.1:c.1470A>C	XP_011537082.1:p.Gly490=
XM_011538781.1:c.918A>C	XP_011537083.1:p.Gly306=
XM_011538778.2:c.1569A>C	XP_011537080.1:p.Gly523=
XM_011538780.2:c.1470A>C	XP_011537082.1:p.Gly490=
XR_001748875.2:n.1584A>C
NM_015665.6:c.1527A>C MANE Select	NP_056480.1:p.Gly509=
NM_001173466.2:c.1428A>C	NP_001166937.1:p.Gly476=