Canonical Allele Identifier: CA385035333

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701407C>G (hg19) ; chr12:g.53307623C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307623C>G , CM000674.2:g.53307623C>G	GRCh38
NC_000012.11:g.53701407C>G , CM000674.1:g.53701407C>G	GRCh37
NC_000012.10:g.51987674C>G	NCBI36
NG_016775.1:g.19006G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1507G>C MANE Select	ENSP00000209873.4:p.Glu503Gln
ENST00000546562.6:n.2571G>C
ENST00000547238.6:n.2143G>C
ENST00000547520.6:n.1623G>C
ENST00000547757.2:c.*425G>C	ENSP00000448020.2:n.*425G>C
ENST00000548931.6:c.942G>C	ENSP00000457518.1:p.Arg314Ser
ENST00000549450.6:n.1441G>C
ENST00000672797.1:n.1996G>C
ENST00000209873.8:c.1507G>C	ENSP00000209873.4:p.Glu503Gln
ENST00000394384.7:c.1408G>C	ENSP00000377908.3:p.Glu470Gln
ENST00000548931.5:c.942G>C	ENSP00000457518.1:p.Arg314Ser
ENST00000550286.5:c.1135G>C	ENSP00000446885.1:p.Glu379Gln
ENST00000552876.5:n.1850G>C
NM_001173466.1:c.1408G>C	NP_001166937.1:p.Glu470Gln
NM_015665.5:c.1507G>C	NP_056480.1:p.Glu503Gln
XM_006719617.2:c.1522G>C	XP_006719680.1:p.Glu508Gln
XM_011538777.1:c.1564G>C	XP_011537079.1:p.Glu522Gln
XM_011538778.1:c.1549G>C	XP_011537080.1:p.Glu517Gln
XM_011538779.1:c.1465G>C	XP_011537081.1:p.Glu489Gln
XM_011538780.1:c.1450G>C	XP_011537082.1:p.Glu484Gln
XM_011538781.1:c.898G>C	XP_011537083.1:p.Glu300Gln
XM_011538778.2:c.1549G>C	XP_011537080.1:p.Glu517Gln
XM_011538780.2:c.1450G>C	XP_011537082.1:p.Glu484Gln
XR_001748875.2:n.1564G>C
NM_015665.6:c.1507G>C MANE Select	NP_056480.1:p.Glu503Gln
NM_001173466.2:c.1408G>C	NP_001166937.1:p.Glu470Gln