Canonical Allele Identifier: CA385034721

Gene: AAAS

Linked Data

• dbSNP Id: rs1475388142
• MyVariant Identifiers: chr12:g.53701322A>G (hg19) ; chr12:g.53307538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307538A>G , CM000674.2:g.53307538A>G	GRCh38
NC_000012.11:g.53701322A>G , CM000674.1:g.53701322A>G	GRCh37
NC_000012.10:g.51987589A>G	NCBI36
NG_016775.1:g.19091T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1592T>C MANE Select	ENSP00000209873.4:p.Leu531Pro
ENST00000546562.6:n.2656T>C
ENST00000547238.6:n.2228T>C
ENST00000547757.2:c.*510T>C	ENSP00000448020.2:n.*510T>C
ENST00000548931.6:c.1027T>C	ENSP00000457518.1:p.Ser343Pro
ENST00000549450.6:n.1526T>C
ENST00000672797.1:n.2081T>C
ENST00000209873.8:c.1592T>C	ENSP00000209873.4:p.Leu531Pro
ENST00000394384.7:c.1493T>C	ENSP00000377908.3:p.Leu498Pro
ENST00000548931.5:c.1027T>C	ENSP00000457518.1:p.Ser343Pro
ENST00000550286.5:c.1220T>C	ENSP00000446885.1:p.Leu407Pro
ENST00000552876.5:n.1935T>C
NM_001173466.1:c.1493T>C	NP_001166937.1:p.Leu498Pro
NM_015665.5:c.1592T>C	NP_056480.1:p.Leu531Pro
XM_006719617.2:c.1607T>C	XP_006719680.1:p.Leu536Pro
XM_011538777.1:c.1649T>C	XP_011537079.1:p.Leu550Pro
XM_011538778.1:c.1634T>C	XP_011537080.1:p.Leu545Pro
XM_011538779.1:c.1550T>C	XP_011537081.1:p.Leu517Pro
XM_011538780.1:c.1535T>C	XP_011537082.1:p.Leu512Pro
XM_011538781.1:c.983T>C	XP_011537083.1:p.Leu328Pro
XM_011538778.2:c.1634T>C	XP_011537080.1:p.Leu545Pro
XM_011538780.2:c.1535T>C	XP_011537082.1:p.Leu512Pro
XR_001748875.2:n.1649T>C
NM_015665.6:c.1592T>C MANE Select	NP_056480.1:p.Leu531Pro
NM_001173466.2:c.1493T>C	NP_001166937.1:p.Leu498Pro