Canonical Allele Identifier: CA385035254

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701390A>C (hg19) ; chr12:g.53307606A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307606A>C , CM000674.2:g.53307606A>C	GRCh38
NC_000012.11:g.53701390A>C , CM000674.1:g.53701390A>C	GRCh37
NC_000012.10:g.51987657A>C	NCBI36
NG_016775.1:g.19023T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1524T>G MANE Select	ENSP00000209873.4:p.Gly508=
ENST00000546562.6:n.2588T>G
ENST00000547238.6:n.2160T>G
ENST00000547520.6:n.1640T>G
ENST00000547757.2:c.*442T>G	ENSP00000448020.2:n.*442T>G
ENST00000548931.6:c.959T>G	ENSP00000457518.1:p.Val320Gly
ENST00000549450.6:n.1458T>G
ENST00000672797.1:n.2013T>G
ENST00000209873.8:c.1524T>G	ENSP00000209873.4:p.Gly508=
ENST00000394384.7:c.1425T>G	ENSP00000377908.3:p.Gly475=
ENST00000548931.5:c.959T>G	ENSP00000457518.1:p.Val320Gly
ENST00000550286.5:c.1152T>G	ENSP00000446885.1:p.Gly384=
ENST00000552876.5:n.1867T>G
NM_001173466.1:c.1425T>G	NP_001166937.1:p.Gly475=
NM_015665.5:c.1524T>G	NP_056480.1:p.Gly508=
XM_006719617.2:c.1539T>G	XP_006719680.1:p.Gly513=
XM_011538777.1:c.1581T>G	XP_011537079.1:p.Gly527=
XM_011538778.1:c.1566T>G	XP_011537080.1:p.Gly522=
XM_011538779.1:c.1482T>G	XP_011537081.1:p.Gly494=
XM_011538780.1:c.1467T>G	XP_011537082.1:p.Gly489=
XM_011538781.1:c.915T>G	XP_011537083.1:p.Gly305=
XM_011538778.2:c.1566T>G	XP_011537080.1:p.Gly522=
XM_011538780.2:c.1467T>G	XP_011537082.1:p.Gly489=
XR_001748875.2:n.1581T>G
NM_015665.6:c.1524T>G MANE Select	NP_056480.1:p.Gly508=
NM_001173466.2:c.1425T>G	NP_001166937.1:p.Gly475=