Canonical Allele Identifier: CA385037461

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701492C>G (hg19) ; chr12:g.53307708C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307708C>G , CM000674.2:g.53307708C>G	GRCh38
NC_000012.11:g.53701492C>G , CM000674.1:g.53701492C>G	GRCh37
NC_000012.10:g.51987759C>G	NCBI36
NG_016775.1:g.18921G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1422G>C MANE Select	ENSP00000209873.4:p.Trp474Cys
ENST00000546562.6:n.2486G>C
ENST00000547238.6:n.2058G>C
ENST00000547520.6:n.1538G>C
ENST00000547757.2:c.*340G>C	ENSP00000448020.2:n.*340G>C
ENST00000548880.2:n.1872G>C
ENST00000548931.6:c.857G>C	ENSP00000457518.1:p.Gly286Ala
ENST00000549450.6:n.1356G>C
ENST00000552161.6:n.2500G>C
ENST00000672797.1:n.1911G>C
ENST00000209873.8:c.1422G>C	ENSP00000209873.4:p.Trp474Cys
ENST00000394384.7:c.1323G>C	ENSP00000377908.3:p.Trp441Cys
ENST00000548931.5:c.857G>C	ENSP00000457518.1:p.Gly286Ala
ENST00000550286.5:c.1050G>C	ENSP00000446885.1:p.Trp350Cys
ENST00000552876.5:n.1765G>C
NM_001173466.1:c.1323G>C	NP_001166937.1:p.Trp441Cys
NM_015665.5:c.1422G>C	NP_056480.1:p.Trp474Cys
XM_006719617.2:c.1437G>C	XP_006719680.1:p.Trp479Cys
XM_011538777.1:c.1479G>C	XP_011537079.1:p.Trp493Cys
XM_011538778.1:c.1464G>C	XP_011537080.1:p.Trp488Cys
XM_011538779.1:c.1380G>C	XP_011537081.1:p.Trp460Cys
XM_011538780.1:c.1365G>C	XP_011537082.1:p.Trp455Cys
XM_011538781.1:c.813G>C	XP_011537083.1:p.Trp271Cys
XM_011538778.2:c.1464G>C	XP_011537080.1:p.Trp488Cys
XM_011538780.2:c.1365G>C	XP_011537082.1:p.Trp455Cys
XR_001748875.2:n.1479G>C
NM_015665.6:c.1422G>C MANE Select	NP_056480.1:p.Trp474Cys
NM_001173466.2:c.1323G>C	NP_001166937.1:p.Trp441Cys