Canonical Allele Identifier: CA385036680

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701418C>G (hg19) ; chr12:g.53307634C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307634C>G , CM000674.2:g.53307634C>G	GRCh38
NC_000012.11:g.53701418C>G , CM000674.1:g.53701418C>G	GRCh37
NC_000012.10:g.51987685C>G	NCBI36
NG_016775.1:g.18995G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1496G>C MANE Select	ENSP00000209873.4:p.Gly499Ala
ENST00000546562.6:n.2560G>C
ENST00000547238.6:n.2132G>C
ENST00000547520.6:n.1612G>C
ENST00000547757.2:c.*414G>C	ENSP00000448020.2:n.*414G>C
ENST00000548931.6:c.931G>C	ENSP00000457518.1:p.Gly311Arg
ENST00000549450.6:n.1430G>C
ENST00000672797.1:n.1985G>C
ENST00000209873.8:c.1496G>C	ENSP00000209873.4:p.Gly499Ala
ENST00000394384.7:c.1397G>C	ENSP00000377908.3:p.Gly466Ala
ENST00000548931.5:c.931G>C	ENSP00000457518.1:p.Gly311Arg
ENST00000550286.5:c.1124G>C	ENSP00000446885.1:p.Gly375Ala
ENST00000552876.5:n.1839G>C
NM_001173466.1:c.1397G>C	NP_001166937.1:p.Gly466Ala
NM_015665.5:c.1496G>C	NP_056480.1:p.Gly499Ala
XM_006719617.2:c.1511G>C	XP_006719680.1:p.Gly504Ala
XM_011538777.1:c.1553G>C	XP_011537079.1:p.Gly518Ala
XM_011538778.1:c.1538G>C	XP_011537080.1:p.Gly513Ala
XM_011538779.1:c.1454G>C	XP_011537081.1:p.Gly485Ala
XM_011538780.1:c.1439G>C	XP_011537082.1:p.Gly480Ala
XM_011538781.1:c.887G>C	XP_011537083.1:p.Gly296Ala
XM_011538778.2:c.1538G>C	XP_011537080.1:p.Gly513Ala
XM_011538780.2:c.1439G>C	XP_011537082.1:p.Gly480Ala
XR_001748875.2:n.1553G>C
NM_015665.6:c.1496G>C MANE Select	NP_056480.1:p.Gly499Ala
NM_001173466.2:c.1397G>C	NP_001166937.1:p.Gly466Ala