Canonical Allele Identifier: CA385038332

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701837A>T (hg19) ; chr12:g.53308053A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308053A>T , CM000674.2:g.53308053A>T	GRCh38
NC_000012.11:g.53701837A>T , CM000674.1:g.53701837A>T	GRCh37
NC_000012.10:g.51988104A>T	NCBI36
NG_016775.1:g.18576T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1330T>A MANE Select	ENSP00000209873.4:p.Cys444Ser
ENST00000546562.6:n.2394T>A
ENST00000547238.6:n.1966T>A
ENST00000547520.6:n.1324T>A
ENST00000547757.2:c.379T>A	ENSP00000448020.2:p.Trp127Arg
ENST00000548880.2:n.1780T>A
ENST00000548931.6:c.850T>A	ENSP00000457518.1:p.Trp284Arg
ENST00000549450.6:n.1264T>A
ENST00000552161.6:n.2286T>A
ENST00000672797.1:n.1819T>A
ENST00000672900.1:n.2420T>A
ENST00000209873.8:c.1330T>A	ENSP00000209873.4:p.Cys444Ser
ENST00000394384.7:c.1231T>A	ENSP00000377908.3:p.Cys411Ser
ENST00000548931.5:c.850T>A	ENSP00000457518.1:p.Trp284Arg
ENST00000550033.5:n.585T>A
ENST00000550286.5:c.958T>A	ENSP00000446885.1:p.Cys320Ser
ENST00000552876.5:n.1673T>A
NM_001173466.1:c.1231T>A	NP_001166937.1:p.Cys411Ser
NM_015665.5:c.1330T>A	NP_056480.1:p.Cys444Ser
XM_006719617.2:c.1345T>A	XP_006719680.1:p.Cys449Ser
XM_011538777.1:c.1345T>A	XP_011537079.1:p.Cys449Ser
XM_011538778.1:c.1330T>A	XP_011537080.1:p.Cys444Ser
XM_011538779.1:c.1246T>A	XP_011537081.1:p.Cys416Ser
XM_011538780.1:c.1231T>A	XP_011537082.1:p.Cys411Ser
XM_011538781.1:c.679T>A	XP_011537083.1:p.Cys227Ser
XM_011538778.2:c.1330T>A	XP_011537080.1:p.Cys444Ser
XM_011538780.2:c.1231T>A	XP_011537082.1:p.Cys411Ser
XR_001748875.2:n.1387T>A
NM_015665.6:c.1330T>A MANE Select	NP_056480.1:p.Cys444Ser
NM_001173466.2:c.1231T>A	NP_001166937.1:p.Cys411Ser