Canonical Allele Identifier: CA385034772

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701328T>G (hg19) ; chr12:g.53307544T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307544T>G , CM000674.2:g.53307544T>G	GRCh38
NC_000012.11:g.53701328T>G , CM000674.1:g.53701328T>G	GRCh37
NC_000012.10:g.51987595T>G	NCBI36
NG_016775.1:g.19085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1586A>C MANE Select	ENSP00000209873.4:p.Asp529Ala
ENST00000546562.6:n.2650A>C
ENST00000547238.6:n.2222A>C
ENST00000547520.6:n.1702A>C
ENST00000547757.2:c.*504A>C	ENSP00000448020.2:n.*504A>C
ENST00000548931.6:c.1021A>C	ENSP00000457518.1:p.Thr341Pro
ENST00000549450.6:n.1520A>C
ENST00000672797.1:n.2075A>C
ENST00000209873.8:c.1586A>C	ENSP00000209873.4:p.Asp529Ala
ENST00000394384.7:c.1487A>C	ENSP00000377908.3:p.Asp496Ala
ENST00000548931.5:c.1021A>C	ENSP00000457518.1:p.Thr341Pro
ENST00000550286.5:c.1214A>C	ENSP00000446885.1:p.Asp405Ala
ENST00000552876.5:n.1929A>C
NM_001173466.1:c.1487A>C	NP_001166937.1:p.Asp496Ala
NM_015665.5:c.1586A>C	NP_056480.1:p.Asp529Ala
XM_006719617.2:c.1601A>C	XP_006719680.1:p.Asp534Ala
XM_011538777.1:c.1643A>C	XP_011537079.1:p.Asp548Ala
XM_011538778.1:c.1628A>C	XP_011537080.1:p.Asp543Ala
XM_011538779.1:c.1544A>C	XP_011537081.1:p.Asp515Ala
XM_011538780.1:c.1529A>C	XP_011537082.1:p.Asp510Ala
XM_011538781.1:c.977A>C	XP_011537083.1:p.Asp326Ala
XM_011538778.2:c.1628A>C	XP_011537080.1:p.Asp543Ala
XM_011538780.2:c.1529A>C	XP_011537082.1:p.Asp510Ala
XR_001748875.2:n.1643A>C
NM_015665.6:c.1586A>C MANE Select	NP_056480.1:p.Asp529Ala
NM_001173466.2:c.1487A>C	NP_001166937.1:p.Asp496Ala