Canonical Allele Identifier: CA479918460

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702591G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308807G>A , CM000674.2:g.53308807G>A	GRCh38
NC_000012.11:g.53702591G>A , CM000674.1:g.53702591G>A	GRCh37
NC_000012.10:g.51988858G>A	NCBI36
NG_016775.1:g.17822C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1005C>T MANE Select	ENSP00000209873.4:p.Cys335=
ENST00000546393.7:n.1850C>T
ENST00000546562.6:n.2069C>T
ENST00000547238.6:n.1641C>T
ENST00000547520.6:n.999C>T
ENST00000547757.2:c.54C>T	ENSP00000448020.2:p.Cys18=
ENST00000548880.2:n.1455C>T
ENST00000548931.6:c.525C>T	ENSP00000457518.1:p.Cys175=
ENST00000549450.6:n.939C>T
ENST00000552161.6:n.1961C>T
ENST00000672797.1:n.1494C>T
ENST00000672900.1:n.1947C>T
ENST00000209873.8:c.1005C>T	ENSP00000209873.4:p.Cys335=
ENST00000394384.7:c.906C>T	ENSP00000377908.3:p.Cys302=
ENST00000547520.5:n.709C>T
ENST00000548931.5:c.525C>T	ENSP00000457518.1:p.Cys175=
ENST00000550033.5:n.260C>T
ENST00000550286.5:c.633C>T	ENSP00000446885.1:p.Cys211=
ENST00000552876.5:n.1348C>T
NM_001173466.1:c.906C>T	NP_001166937.1:p.Cys302=
NM_015665.5:c.1005C>T	NP_056480.1:p.Cys335=
XM_006719617.2:c.1020C>T	XP_006719680.1:p.Cys340=
XM_006719619.2:c.*15C>T	XP_006719682.1:n.*15C>T
XM_011538777.1:c.1020C>T	XP_011537079.1:p.Cys340=
XM_011538778.1:c.1005C>T	XP_011537080.1:p.Cys335=
XM_011538779.1:c.921C>T	XP_011537081.1:p.Cys307=
XM_011538780.1:c.906C>T	XP_011537082.1:p.Cys302=
XM_011538781.1:c.354C>T	XP_011537083.1:p.Cys118=
XM_011538778.2:c.1005C>T	XP_011537080.1:p.Cys335=
XM_011538780.2:c.906C>T	XP_011537082.1:p.Cys302=
XR_001748875.2:n.1062C>T
NM_015665.6:c.1005C>T MANE Select	NP_056480.1:p.Cys335=
NM_001173466.2:c.906C>T	NP_001166937.1:p.Cys302=