Canonical Allele Identifier: CA385038317

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701836C>G (hg19) ; chr12:g.53308052C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308052C>G , CM000674.2:g.53308052C>G	GRCh38
NC_000012.11:g.53701836C>G , CM000674.1:g.53701836C>G	GRCh37
NC_000012.10:g.51988103C>G	NCBI36
NG_016775.1:g.18577G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1331G>C MANE Select	ENSP00000209873.4:p.Cys444Ser
ENST00000546562.6:n.2395G>C
ENST00000547238.6:n.1967G>C
ENST00000547520.6:n.1325G>C
ENST00000547757.2:c.380G>C	ENSP00000448020.2:p.Trp127Ser
ENST00000548880.2:n.1781G>C
ENST00000548931.6:c.851G>C	ENSP00000457518.1:p.Trp284Ser
ENST00000549450.6:n.1265G>C
ENST00000552161.6:n.2287G>C
ENST00000672797.1:n.1820G>C
ENST00000672900.1:n.2421G>C
ENST00000209873.8:c.1331G>C	ENSP00000209873.4:p.Cys444Ser
ENST00000394384.7:c.1232G>C	ENSP00000377908.3:p.Cys411Ser
ENST00000548931.5:c.851G>C	ENSP00000457518.1:p.Trp284Ser
ENST00000550033.5:n.586G>C
ENST00000550286.5:c.959G>C	ENSP00000446885.1:p.Cys320Ser
ENST00000552876.5:n.1674G>C
NM_001173466.1:c.1232G>C	NP_001166937.1:p.Cys411Ser
NM_015665.5:c.1331G>C	NP_056480.1:p.Cys444Ser
XM_006719617.2:c.1346G>C	XP_006719680.1:p.Cys449Ser
XM_011538777.1:c.1346G>C	XP_011537079.1:p.Cys449Ser
XM_011538778.1:c.1331G>C	XP_011537080.1:p.Cys444Ser
XM_011538779.1:c.1247G>C	XP_011537081.1:p.Cys416Ser
XM_011538780.1:c.1232G>C	XP_011537082.1:p.Cys411Ser
XM_011538781.1:c.680G>C	XP_011537083.1:p.Cys227Ser
XM_011538778.2:c.1331G>C	XP_011537080.1:p.Cys444Ser
XM_011538780.2:c.1232G>C	XP_011537082.1:p.Cys411Ser
XR_001748875.2:n.1388G>C
NM_015665.6:c.1331G>C MANE Select	NP_056480.1:p.Cys444Ser
NM_001173466.2:c.1232G>C	NP_001166937.1:p.Cys411Ser