Canonical Allele Identifier: CA385037516

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701497C>T (hg19) ; chr12:g.53307713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307713C>T , CM000674.2:g.53307713C>T	GRCh38
NC_000012.11:g.53701497C>T , CM000674.1:g.53701497C>T	GRCh37
NC_000012.10:g.51987764C>T	NCBI36
NG_016775.1:g.18916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1417G>A MANE Select	ENSP00000209873.4:p.Gly473Ser
ENST00000546562.6:n.2481G>A
ENST00000547238.6:n.2053G>A
ENST00000547520.6:n.1533G>A
ENST00000547757.2:c.*335G>A	ENSP00000448020.2:n.*335G>A
ENST00000548880.2:n.1867G>A
ENST00000548931.6:c.852G>A	ENSP00000457518.1:p.Trp284Ter
ENST00000549450.6:n.1351G>A
ENST00000552161.6:n.2495G>A
ENST00000672797.1:n.1906G>A
ENST00000209873.8:c.1417G>A	ENSP00000209873.4:p.Gly473Ser
ENST00000394384.7:c.1318G>A	ENSP00000377908.3:p.Gly440Ser
ENST00000548931.5:c.852G>A	ENSP00000457518.1:p.Trp284Ter
ENST00000550286.5:c.1045G>A	ENSP00000446885.1:p.Gly349Ser
ENST00000552876.5:n.1760G>A
NM_001173466.1:c.1318G>A	NP_001166937.1:p.Gly440Ser
NM_015665.5:c.1417G>A	NP_056480.1:p.Gly473Ser
XM_006719617.2:c.1432G>A	XP_006719680.1:p.Gly478Ser
XM_011538777.1:c.1474G>A	XP_011537079.1:p.Gly492Ser
XM_011538778.1:c.1459G>A	XP_011537080.1:p.Gly487Ser
XM_011538779.1:c.1375G>A	XP_011537081.1:p.Gly459Ser
XM_011538780.1:c.1360G>A	XP_011537082.1:p.Gly454Ser
XM_011538781.1:c.808G>A	XP_011537083.1:p.Gly270Ser
XM_011538778.2:c.1459G>A	XP_011537080.1:p.Gly487Ser
XM_011538780.2:c.1360G>A	XP_011537082.1:p.Gly454Ser
XR_001748875.2:n.1474G>A
NM_015665.6:c.1417G>A MANE Select	NP_056480.1:p.Gly473Ser
NM_001173466.2:c.1318G>A	NP_001166937.1:p.Gly440Ser