Canonical Allele Identifier: CA385035263

Gene: AAAS

Linked Data

• dbSNP Id: rs1298263008
• gnomAD v3: 12-53307607-C-T
• gnomAD v4: 12-53307607-C-T
• MyVariant Identifiers: chr12:g.53701391C>T (hg19) ; chr12:g.53307607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307607C>T , CM000674.2:g.53307607C>T	GRCh38
NC_000012.11:g.53701391C>T , CM000674.1:g.53701391C>T	GRCh37
NC_000012.10:g.51987658C>T	NCBI36
NG_016775.1:g.19022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1523G>A MANE Select	ENSP00000209873.4:p.Gly508Asp
ENST00000546562.6:n.2587G>A
ENST00000547238.6:n.2159G>A
ENST00000547520.6:n.1639G>A
ENST00000547757.2:c.*441G>A	ENSP00000448020.2:n.*441G>A
ENST00000548931.6:c.958G>A	ENSP00000457518.1:p.Val320Met
ENST00000549450.6:n.1457G>A
ENST00000672797.1:n.2012G>A
ENST00000209873.8:c.1523G>A	ENSP00000209873.4:p.Gly508Asp
ENST00000394384.7:c.1424G>A	ENSP00000377908.3:p.Gly475Asp
ENST00000548931.5:c.958G>A	ENSP00000457518.1:p.Val320Met
ENST00000550286.5:c.1151G>A	ENSP00000446885.1:p.Gly384Asp
ENST00000552876.5:n.1866G>A
NM_001173466.1:c.1424G>A	NP_001166937.1:p.Gly475Asp
NM_015665.5:c.1523G>A	NP_056480.1:p.Gly508Asp
XM_006719617.2:c.1538G>A	XP_006719680.1:p.Gly513Asp
XM_011538777.1:c.1580G>A	XP_011537079.1:p.Gly527Asp
XM_011538778.1:c.1565G>A	XP_011537080.1:p.Gly522Asp
XM_011538779.1:c.1481G>A	XP_011537081.1:p.Gly494Asp
XM_011538780.1:c.1466G>A	XP_011537082.1:p.Gly489Asp
XM_011538781.1:c.914G>A	XP_011537083.1:p.Gly305Asp
XM_011538778.2:c.1565G>A	XP_011537080.1:p.Gly522Asp
XM_011538780.2:c.1466G>A	XP_011537082.1:p.Gly489Asp
XR_001748875.2:n.1580G>A
NM_015665.6:c.1523G>A MANE Select	NP_056480.1:p.Gly508Asp
NM_001173466.2:c.1424G>A	NP_001166937.1:p.Gly475Asp