Canonical Allele Identifier: CA385035124

Gene: AAAS

Linked Data

• dbSNP Id: rs1458315482
• gnomAD v2: 12-53701373-T-G
• MyVariant Identifiers: chr12:g.53701373T>G (hg19) ; chr12:g.53307589T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307589T>G , CM000674.2:g.53307589T>G	GRCh38
NC_000012.11:g.53701373T>G , CM000674.1:g.53701373T>G	GRCh37
NC_000012.10:g.51987640T>G	NCBI36
NG_016775.1:g.19040A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1541A>C MANE Select	ENSP00000209873.4:p.Asp514Ala
ENST00000546562.6:n.2605A>C
ENST00000547238.6:n.2177A>C
ENST00000547520.6:n.1657A>C
ENST00000547757.2:c.*459A>C	ENSP00000448020.2:n.*459A>C
ENST00000548931.6:c.976A>C	ENSP00000457518.1:p.Thr326Pro
ENST00000549450.6:n.1475A>C
ENST00000672797.1:n.2030A>C
ENST00000209873.8:c.1541A>C	ENSP00000209873.4:p.Asp514Ala
ENST00000394384.7:c.1442A>C	ENSP00000377908.3:p.Asp481Ala
ENST00000548931.5:c.976A>C	ENSP00000457518.1:p.Thr326Pro
ENST00000550286.5:c.1169A>C	ENSP00000446885.1:p.Asp390Ala
ENST00000552876.5:n.1884A>C
NM_001173466.1:c.1442A>C	NP_001166937.1:p.Asp481Ala
NM_015665.5:c.1541A>C	NP_056480.1:p.Asp514Ala
XM_006719617.2:c.1556A>C	XP_006719680.1:p.Asp519Ala
XM_011538777.1:c.1598A>C	XP_011537079.1:p.Asp533Ala
XM_011538778.1:c.1583A>C	XP_011537080.1:p.Asp528Ala
XM_011538779.1:c.1499A>C	XP_011537081.1:p.Asp500Ala
XM_011538780.1:c.1484A>C	XP_011537082.1:p.Asp495Ala
XM_011538781.1:c.932A>C	XP_011537083.1:p.Asp311Ala
XM_011538778.2:c.1583A>C	XP_011537080.1:p.Asp528Ala
XM_011538780.2:c.1484A>C	XP_011537082.1:p.Asp495Ala
XR_001748875.2:n.1598A>C
NM_015665.6:c.1541A>C MANE Select	NP_056480.1:p.Asp514Ala
NM_001173466.2:c.1442A>C	NP_001166937.1:p.Asp481Ala