Canonical Allele Identifier: CA385034872

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701341A>C (hg19) ; chr12:g.53307557A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307557A>C , CM000674.2:g.53307557A>C	GRCh38
NC_000012.11:g.53701341A>C , CM000674.1:g.53701341A>C	GRCh37
NC_000012.10:g.51987608A>C	NCBI36
NG_016775.1:g.19072T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1573T>G MANE Select	ENSP00000209873.4:p.Ser525Ala
ENST00000546562.6:n.2637T>G
ENST00000547238.6:n.2209T>G
ENST00000547520.6:n.1689T>G
ENST00000547757.2:c.*491T>G	ENSP00000448020.2:n.*491T>G
ENST00000548931.6:c.1008T>G	ENSP00000457518.1:p.Pro336=
ENST00000549450.6:n.1507T>G
ENST00000672797.1:n.2062T>G
ENST00000209873.8:c.1573T>G	ENSP00000209873.4:p.Ser525Ala
ENST00000394384.7:c.1474T>G	ENSP00000377908.3:p.Ser492Ala
ENST00000548931.5:c.1008T>G	ENSP00000457518.1:p.Pro336=
ENST00000550286.5:c.1201T>G	ENSP00000446885.1:p.Ser401Ala
ENST00000552876.5:n.1916T>G
NM_001173466.1:c.1474T>G	NP_001166937.1:p.Ser492Ala
NM_015665.5:c.1573T>G	NP_056480.1:p.Ser525Ala
XM_006719617.2:c.1588T>G	XP_006719680.1:p.Ser530Ala
XM_011538777.1:c.1630T>G	XP_011537079.1:p.Ser544Ala
XM_011538778.1:c.1615T>G	XP_011537080.1:p.Ser539Ala
XM_011538779.1:c.1531T>G	XP_011537081.1:p.Ser511Ala
XM_011538780.1:c.1516T>G	XP_011537082.1:p.Ser506Ala
XM_011538781.1:c.964T>G	XP_011537083.1:p.Ser322Ala
XM_011538778.2:c.1615T>G	XP_011537080.1:p.Ser539Ala
XM_011538780.2:c.1516T>G	XP_011537082.1:p.Ser506Ala
XR_001748875.2:n.1630T>G
NM_015665.6:c.1573T>G MANE Select	NP_056480.1:p.Ser525Ala
NM_001173466.2:c.1474T>G	NP_001166937.1:p.Ser492Ala