Canonical Allele Identifier: CA385036668

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701417C>G (hg19) ; chr12:g.53307633C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307633C>G , CM000674.2:g.53307633C>G	GRCh38
NC_000012.11:g.53701417C>G , CM000674.1:g.53701417C>G	GRCh37
NC_000012.10:g.51987684C>G	NCBI36
NG_016775.1:g.18996G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1497G>C MANE Select	ENSP00000209873.4:p.Gly499=
ENST00000546562.6:n.2561G>C
ENST00000547238.6:n.2133G>C
ENST00000547520.6:n.1613G>C
ENST00000547757.2:c.*415G>C	ENSP00000448020.2:n.*415G>C
ENST00000548931.6:c.932G>C	ENSP00000457518.1:p.Gly311Ala
ENST00000549450.6:n.1431G>C
ENST00000672797.1:n.1986G>C
ENST00000209873.8:c.1497G>C	ENSP00000209873.4:p.Gly499=
ENST00000394384.7:c.1398G>C	ENSP00000377908.3:p.Gly466=
ENST00000548931.5:c.932G>C	ENSP00000457518.1:p.Gly311Ala
ENST00000550286.5:c.1125G>C	ENSP00000446885.1:p.Gly375=
ENST00000552876.5:n.1840G>C
NM_001173466.1:c.1398G>C	NP_001166937.1:p.Gly466=
NM_015665.5:c.1497G>C	NP_056480.1:p.Gly499=
XM_006719617.2:c.1512G>C	XP_006719680.1:p.Gly504=
XM_011538777.1:c.1554G>C	XP_011537079.1:p.Gly518=
XM_011538778.1:c.1539G>C	XP_011537080.1:p.Gly513=
XM_011538779.1:c.1455G>C	XP_011537081.1:p.Gly485=
XM_011538780.1:c.1440G>C	XP_011537082.1:p.Gly480=
XM_011538781.1:c.888G>C	XP_011537083.1:p.Gly296=
XM_011538778.2:c.1539G>C	XP_011537080.1:p.Gly513=
XM_011538780.2:c.1440G>C	XP_011537082.1:p.Gly480=
XR_001748875.2:n.1554G>C
NM_015665.6:c.1497G>C MANE Select	NP_056480.1:p.Gly499=
NM_001173466.2:c.1398G>C	NP_001166937.1:p.Gly466=