Canonical Allele Identifier: CA385040471

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702548C>G (hg19) ; chr12:g.53308764C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308764C>G , CM000674.2:g.53308764C>G	GRCh38
NC_000012.11:g.53702548C>G , CM000674.1:g.53702548C>G	GRCh37
NC_000012.10:g.51988815C>G	NCBI36
NG_016775.1:g.17865G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1048G>C MANE Select	ENSP00000209873.4:p.Glu350Gln
ENST00000546562.6:n.2112G>C
ENST00000547238.6:n.1684G>C
ENST00000547520.6:n.1042G>C
ENST00000547757.2:c.97G>C	ENSP00000448020.2:p.Glu33Gln
ENST00000548880.2:n.1498G>C
ENST00000548931.6:c.568G>C	ENSP00000457518.1:p.Glu190Gln
ENST00000549450.6:n.982G>C
ENST00000552161.6:n.2004G>C
ENST00000672797.1:n.1537G>C
ENST00000672900.1:n.1990G>C
ENST00000209873.8:c.1048G>C	ENSP00000209873.4:p.Glu350Gln
ENST00000394384.7:c.949G>C	ENSP00000377908.3:p.Glu317Gln
ENST00000547520.5:n.752G>C
ENST00000548931.5:c.568G>C	ENSP00000457518.1:p.Glu190Gln
ENST00000550033.5:n.303G>C
ENST00000550286.5:c.676G>C	ENSP00000446885.1:p.Glu226Gln
ENST00000552876.5:n.1391G>C
NM_001173466.1:c.949G>C	NP_001166937.1:p.Glu317Gln
NM_015665.5:c.1048G>C	NP_056480.1:p.Glu350Gln
XM_006719617.2:c.1063G>C	XP_006719680.1:p.Glu355Gln
XM_006719619.2:c.*58G>C	XP_006719682.1:n.*58G>C
XM_011538777.1:c.1063G>C	XP_011537079.1:p.Glu355Gln
XM_011538778.1:c.1048G>C	XP_011537080.1:p.Glu350Gln
XM_011538779.1:c.964G>C	XP_011537081.1:p.Glu322Gln
XM_011538780.1:c.949G>C	XP_011537082.1:p.Glu317Gln
XM_011538781.1:c.397G>C	XP_011537083.1:p.Glu133Gln
XM_011538778.2:c.1048G>C	XP_011537080.1:p.Glu350Gln
XM_011538780.2:c.949G>C	XP_011537082.1:p.Glu317Gln
XR_001748875.2:n.1105G>C
NM_015665.6:c.1048G>C MANE Select	NP_056480.1:p.Glu350Gln
NM_001173466.2:c.949G>C	NP_001166937.1:p.Glu317Gln