Canonical Allele Identifier: CA385037500

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701496C>G (hg19) ; chr12:g.53307712C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307712C>G , CM000674.2:g.53307712C>G	GRCh38
NC_000012.11:g.53701496C>G , CM000674.1:g.53701496C>G	GRCh37
NC_000012.10:g.51987763C>G	NCBI36
NG_016775.1:g.18917G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1418G>C MANE Select	ENSP00000209873.4:p.Gly473Ala
ENST00000546562.6:n.2482G>C
ENST00000547238.6:n.2054G>C
ENST00000547520.6:n.1534G>C
ENST00000547757.2:c.*336G>C	ENSP00000448020.2:n.*336G>C
ENST00000548880.2:n.1868G>C
ENST00000548931.6:c.853G>C	ENSP00000457518.1:p.Ala285Pro
ENST00000549450.6:n.1352G>C
ENST00000552161.6:n.2496G>C
ENST00000672797.1:n.1907G>C
ENST00000209873.8:c.1418G>C	ENSP00000209873.4:p.Gly473Ala
ENST00000394384.7:c.1319G>C	ENSP00000377908.3:p.Gly440Ala
ENST00000548931.5:c.853G>C	ENSP00000457518.1:p.Ala285Pro
ENST00000550286.5:c.1046G>C	ENSP00000446885.1:p.Gly349Ala
ENST00000552876.5:n.1761G>C
NM_001173466.1:c.1319G>C	NP_001166937.1:p.Gly440Ala
NM_015665.5:c.1418G>C	NP_056480.1:p.Gly473Ala
XM_006719617.2:c.1433G>C	XP_006719680.1:p.Gly478Ala
XM_011538777.1:c.1475G>C	XP_011537079.1:p.Gly492Ala
XM_011538778.1:c.1460G>C	XP_011537080.1:p.Gly487Ala
XM_011538779.1:c.1376G>C	XP_011537081.1:p.Gly459Ala
XM_011538780.1:c.1361G>C	XP_011537082.1:p.Gly454Ala
XM_011538781.1:c.809G>C	XP_011537083.1:p.Gly270Ala
XM_011538778.2:c.1460G>C	XP_011537080.1:p.Gly487Ala
XM_011538780.2:c.1361G>C	XP_011537082.1:p.Gly454Ala
XR_001748875.2:n.1475G>C
NM_015665.6:c.1418G>C MANE Select	NP_056480.1:p.Gly473Ala
NM_001173466.2:c.1319G>C	NP_001166937.1:p.Gly440Ala