Canonical Allele Identifier: CA385040459

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702547T>G (hg19) ; chr12:g.53308763T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308763T>G , CM000674.2:g.53308763T>G	GRCh38
NC_000012.11:g.53702547T>G , CM000674.1:g.53702547T>G	GRCh37
NC_000012.10:g.51988814T>G	NCBI36
NG_016775.1:g.17866A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1049A>C MANE Select	ENSP00000209873.4:p.Glu350Ala
ENST00000546562.6:n.2113A>C
ENST00000547238.6:n.1685A>C
ENST00000547520.6:n.1043A>C
ENST00000547757.2:c.98A>C	ENSP00000448020.2:p.Glu33Ala
ENST00000548880.2:n.1499A>C
ENST00000548931.6:c.569A>C	ENSP00000457518.1:p.Glu190Ala
ENST00000549450.6:n.983A>C
ENST00000552161.6:n.2005A>C
ENST00000672797.1:n.1538A>C
ENST00000672900.1:n.1991A>C
ENST00000209873.8:c.1049A>C	ENSP00000209873.4:p.Glu350Ala
ENST00000394384.7:c.950A>C	ENSP00000377908.3:p.Glu317Ala
ENST00000547520.5:n.753A>C
ENST00000548931.5:c.569A>C	ENSP00000457518.1:p.Glu190Ala
ENST00000550033.5:n.304A>C
ENST00000550286.5:c.677A>C	ENSP00000446885.1:p.Glu226Ala
ENST00000552876.5:n.1392A>C
NM_001173466.1:c.950A>C	NP_001166937.1:p.Glu317Ala
NM_015665.5:c.1049A>C	NP_056480.1:p.Glu350Ala
XM_006719617.2:c.1064A>C	XP_006719680.1:p.Glu355Ala
XM_006719619.2:c.*59A>C	XP_006719682.1:n.*59A>C
XM_011538777.1:c.1064A>C	XP_011537079.1:p.Glu355Ala
XM_011538778.1:c.1049A>C	XP_011537080.1:p.Glu350Ala
XM_011538779.1:c.965A>C	XP_011537081.1:p.Glu322Ala
XM_011538780.1:c.950A>C	XP_011537082.1:p.Glu317Ala
XM_011538781.1:c.398A>C	XP_011537083.1:p.Glu133Ala
XM_011538778.2:c.1049A>C	XP_011537080.1:p.Glu350Ala
XM_011538780.2:c.950A>C	XP_011537082.1:p.Glu317Ala
XR_001748875.2:n.1106A>C
NM_015665.6:c.1049A>C MANE Select	NP_056480.1:p.Glu350Ala
NM_001173466.2:c.950A>C	NP_001166937.1:p.Glu317Ala