Canonical Allele Identifier: CA385035130

Gene: AAAS

Linked Data

• dbSNP Id: rs1317990928
• gnomAD v2: 12-53701374-C-T
• gnomAD v4: 12-53307590-C-T
• MyVariant Identifiers: chr12:g.53701374C>T (hg19) ; chr12:g.53307590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307590C>T , CM000674.2:g.53307590C>T	GRCh38
NC_000012.11:g.53701374C>T , CM000674.1:g.53701374C>T	GRCh37
NC_000012.10:g.51987641C>T	NCBI36
NG_016775.1:g.19039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1540G>A MANE Select	ENSP00000209873.4:p.Asp514Asn
ENST00000546562.6:n.2604G>A
ENST00000547238.6:n.2176G>A
ENST00000547520.6:n.1656G>A
ENST00000547757.2:c.*458G>A	ENSP00000448020.2:n.*458G>A
ENST00000548931.6:c.975G>A	ENSP00000457518.1:p.Met325Ile
ENST00000549450.6:n.1474G>A
ENST00000672797.1:n.2029G>A
ENST00000209873.8:c.1540G>A	ENSP00000209873.4:p.Asp514Asn
ENST00000394384.7:c.1441G>A	ENSP00000377908.3:p.Asp481Asn
ENST00000548931.5:c.975G>A	ENSP00000457518.1:p.Met325Ile
ENST00000550286.5:c.1168G>A	ENSP00000446885.1:p.Asp390Asn
ENST00000552876.5:n.1883G>A
NM_001173466.1:c.1441G>A	NP_001166937.1:p.Asp481Asn
NM_015665.5:c.1540G>A	NP_056480.1:p.Asp514Asn
XM_006719617.2:c.1555G>A	XP_006719680.1:p.Asp519Asn
XM_011538777.1:c.1597G>A	XP_011537079.1:p.Asp533Asn
XM_011538778.1:c.1582G>A	XP_011537080.1:p.Asp528Asn
XM_011538779.1:c.1498G>A	XP_011537081.1:p.Asp500Asn
XM_011538780.1:c.1483G>A	XP_011537082.1:p.Asp495Asn
XM_011538781.1:c.931G>A	XP_011537083.1:p.Asp311Asn
XM_011538778.2:c.1582G>A	XP_011537080.1:p.Asp528Asn
XM_011538780.2:c.1483G>A	XP_011537082.1:p.Asp495Asn
XR_001748875.2:n.1597G>A
NM_015665.6:c.1540G>A MANE Select	NP_056480.1:p.Asp514Asn
NM_001173466.2:c.1441G>A	NP_001166937.1:p.Asp481Asn