Canonical Allele Identifier: CA385035221

Gene: AAAS

Linked Data

• dbSNP Id: rs1441154711
• gnomAD v2: 12-53701385-C-T
• gnomAD v4: 12-53307601-C-T
• MyVariant Identifiers: chr12:g.53701385C>T (hg19) ; chr12:g.53307601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307601C>T , CM000674.2:g.53307601C>T	GRCh38
NC_000012.11:g.53701385C>T , CM000674.1:g.53701385C>T	GRCh37
NC_000012.10:g.51987652C>T	NCBI36
NG_016775.1:g.19028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1529G>A MANE Select	ENSP00000209873.4:p.Gly510Asp
ENST00000546562.6:n.2593G>A
ENST00000547238.6:n.2165G>A
ENST00000547520.6:n.1645G>A
ENST00000547757.2:c.*447G>A	ENSP00000448020.2:n.*447G>A
ENST00000548931.6:c.964G>A	ENSP00000457518.1:p.Ala322Thr
ENST00000549450.6:n.1463G>A
ENST00000672797.1:n.2018G>A
ENST00000209873.8:c.1529G>A	ENSP00000209873.4:p.Gly510Asp
ENST00000394384.7:c.1430G>A	ENSP00000377908.3:p.Gly477Asp
ENST00000548931.5:c.964G>A	ENSP00000457518.1:p.Ala322Thr
ENST00000550286.5:c.1157G>A	ENSP00000446885.1:p.Gly386Asp
ENST00000552876.5:n.1872G>A
NM_001173466.1:c.1430G>A	NP_001166937.1:p.Gly477Asp
NM_015665.5:c.1529G>A	NP_056480.1:p.Gly510Asp
XM_006719617.2:c.1544G>A	XP_006719680.1:p.Gly515Asp
XM_011538777.1:c.1586G>A	XP_011537079.1:p.Gly529Asp
XM_011538778.1:c.1571G>A	XP_011537080.1:p.Gly524Asp
XM_011538779.1:c.1487G>A	XP_011537081.1:p.Gly496Asp
XM_011538780.1:c.1472G>A	XP_011537082.1:p.Gly491Asp
XM_011538781.1:c.920G>A	XP_011537083.1:p.Gly307Asp
XM_011538778.2:c.1571G>A	XP_011537080.1:p.Gly524Asp
XM_011538780.2:c.1472G>A	XP_011537082.1:p.Gly491Asp
XR_001748875.2:n.1586G>A
NM_015665.6:c.1529G>A MANE Select	NP_056480.1:p.Gly510Asp
NM_001173466.2:c.1430G>A	NP_001166937.1:p.Gly477Asp