Canonical Allele Identifier: CA479918461

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702594G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308810G>A , CM000674.2:g.53308810G>A	GRCh38
NC_000012.11:g.53702594G>A , CM000674.1:g.53702594G>A	GRCh37
NC_000012.10:g.51988861G>A	NCBI36
NG_016775.1:g.17819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1002C>T MANE Select	ENSP00000209873.4:p.Gly334=
ENST00000546393.7:n.1847C>T
ENST00000546562.6:n.2066C>T
ENST00000547238.6:n.1638C>T
ENST00000547520.6:n.996C>T
ENST00000547757.2:c.51C>T	ENSP00000448020.2:p.Gly17=
ENST00000548880.2:n.1452C>T
ENST00000548931.6:c.522C>T	ENSP00000457518.1:p.Gly174=
ENST00000549450.6:n.936C>T
ENST00000552161.6:n.1958C>T
ENST00000672797.1:n.1491C>T
ENST00000672900.1:n.1944C>T
ENST00000209873.8:c.1002C>T	ENSP00000209873.4:p.Gly334=
ENST00000394384.7:c.903C>T	ENSP00000377908.3:p.Gly301=
ENST00000547520.5:n.706C>T
ENST00000548931.5:c.522C>T	ENSP00000457518.1:p.Gly174=
ENST00000550033.5:n.257C>T
ENST00000550286.5:c.630C>T	ENSP00000446885.1:p.Gly210=
ENST00000552876.5:n.1345C>T
NM_001173466.1:c.903C>T	NP_001166937.1:p.Gly301=
NM_015665.5:c.1002C>T	NP_056480.1:p.Gly334=
XM_006719617.2:c.1017C>T	XP_006719680.1:p.Gly339=
XM_006719619.2:c.*12C>T	XP_006719682.1:n.*12C>T
XM_011538777.1:c.1017C>T	XP_011537079.1:p.Gly339=
XM_011538778.1:c.1002C>T	XP_011537080.1:p.Gly334=
XM_011538779.1:c.918C>T	XP_011537081.1:p.Gly306=
XM_011538780.1:c.903C>T	XP_011537082.1:p.Gly301=
XM_011538781.1:c.351C>T	XP_011537083.1:p.Gly117=
XM_011538778.2:c.1002C>T	XP_011537080.1:p.Gly334=
XM_011538780.2:c.903C>T	XP_011537082.1:p.Gly301=
XR_001748875.2:n.1059C>T
NM_015665.6:c.1002C>T MANE Select	NP_056480.1:p.Gly334=
NM_001173466.2:c.903C>T	NP_001166937.1:p.Gly301=