Canonical Allele Identifier: CA385034790

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701330C>G (hg19) ; chr12:g.53307546C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307546C>G , CM000674.2:g.53307546C>G	GRCh38
NC_000012.11:g.53701330C>G , CM000674.1:g.53701330C>G	GRCh37
NC_000012.10:g.51987597C>G	NCBI36
NG_016775.1:g.19083G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1584G>C MANE Select	ENSP00000209873.4:p.Trp528Cys
ENST00000546562.6:n.2648G>C
ENST00000547238.6:n.2220G>C
ENST00000547520.6:n.1700G>C
ENST00000547757.2:c.*502G>C	ENSP00000448020.2:n.*502G>C
ENST00000548931.6:c.1019G>C	ENSP00000457518.1:p.Gly340Ala
ENST00000549450.6:n.1518G>C
ENST00000672797.1:n.2073G>C
ENST00000209873.8:c.1584G>C	ENSP00000209873.4:p.Trp528Cys
ENST00000394384.7:c.1485G>C	ENSP00000377908.3:p.Trp495Cys
ENST00000548931.5:c.1019G>C	ENSP00000457518.1:p.Gly340Ala
ENST00000550286.5:c.1212G>C	ENSP00000446885.1:p.Trp404Cys
ENST00000552876.5:n.1927G>C
NM_001173466.1:c.1485G>C	NP_001166937.1:p.Trp495Cys
NM_015665.5:c.1584G>C	NP_056480.1:p.Trp528Cys
XM_006719617.2:c.1599G>C	XP_006719680.1:p.Trp533Cys
XM_011538777.1:c.1641G>C	XP_011537079.1:p.Trp547Cys
XM_011538778.1:c.1626G>C	XP_011537080.1:p.Trp542Cys
XM_011538779.1:c.1542G>C	XP_011537081.1:p.Trp514Cys
XM_011538780.1:c.1527G>C	XP_011537082.1:p.Trp509Cys
XM_011538781.1:c.975G>C	XP_011537083.1:p.Trp325Cys
XM_011538778.2:c.1626G>C	XP_011537080.1:p.Trp542Cys
XM_011538780.2:c.1527G>C	XP_011537082.1:p.Trp509Cys
XR_001748875.2:n.1641G>C
NM_015665.6:c.1584G>C MANE Select	NP_056480.1:p.Trp528Cys
NM_001173466.2:c.1485G>C	NP_001166937.1:p.Trp495Cys