Canonical Allele Identifier: CA385040452

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702546C>G (hg19) ; chr12:g.53308762C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308762C>G , CM000674.2:g.53308762C>G	GRCh38
NC_000012.11:g.53702546C>G , CM000674.1:g.53702546C>G	GRCh37
NC_000012.10:g.51988813C>G	NCBI36
NG_016775.1:g.17867G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1050G>C MANE Select	ENSP00000209873.4:p.Glu350Asp
ENST00000546562.6:n.2114G>C
ENST00000547238.6:n.1686G>C
ENST00000547520.6:n.1044G>C
ENST00000547757.2:c.99G>C	ENSP00000448020.2:p.Glu33Asp
ENST00000548880.2:n.1500G>C
ENST00000548931.6:c.570G>C	ENSP00000457518.1:p.Glu190Asp
ENST00000549450.6:n.984G>C
ENST00000552161.6:n.2006G>C
ENST00000672797.1:n.1539G>C
ENST00000672900.1:n.1992G>C
ENST00000209873.8:c.1050G>C	ENSP00000209873.4:p.Glu350Asp
ENST00000394384.7:c.951G>C	ENSP00000377908.3:p.Glu317Asp
ENST00000547520.5:n.754G>C
ENST00000548931.5:c.570G>C	ENSP00000457518.1:p.Glu190Asp
ENST00000550033.5:n.305G>C
ENST00000550286.5:c.678G>C	ENSP00000446885.1:p.Glu226Asp
ENST00000552876.5:n.1393G>C
NM_001173466.1:c.951G>C	NP_001166937.1:p.Glu317Asp
NM_015665.5:c.1050G>C	NP_056480.1:p.Glu350Asp
XM_006719617.2:c.1065G>C	XP_006719680.1:p.Glu355Asp
XM_006719619.2:c.*60G>C	XP_006719682.1:n.*60G>C
XM_011538777.1:c.1065G>C	XP_011537079.1:p.Glu355Asp
XM_011538778.1:c.1050G>C	XP_011537080.1:p.Glu350Asp
XM_011538779.1:c.966G>C	XP_011537081.1:p.Glu322Asp
XM_011538780.1:c.951G>C	XP_011537082.1:p.Glu317Asp
XM_011538781.1:c.399G>C	XP_011537083.1:p.Glu133Asp
XM_011538778.2:c.1050G>C	XP_011537080.1:p.Glu350Asp
XM_011538780.2:c.951G>C	XP_011537082.1:p.Glu317Asp
XR_001748875.2:n.1107G>C
NM_015665.6:c.1050G>C MANE Select	NP_056480.1:p.Glu350Asp
NM_001173466.2:c.951G>C	NP_001166937.1:p.Glu317Asp