Canonical Allele Identifier: CA385037392

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701485C>G (hg19) ; chr12:g.53307701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307701C>G , CM000674.2:g.53307701C>G	GRCh38
NC_000012.11:g.53701485C>G , CM000674.1:g.53701485C>G	GRCh37
NC_000012.10:g.51987752C>G	NCBI36
NG_016775.1:g.18928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1429G>C MANE Select	ENSP00000209873.4:p.Gly477Arg
ENST00000546562.6:n.2493G>C
ENST00000547238.6:n.2065G>C
ENST00000547520.6:n.1545G>C
ENST00000547757.2:c.*347G>C	ENSP00000448020.2:n.*347G>C
ENST00000548880.2:n.1879G>C
ENST00000548931.6:c.864G>C	ENSP00000457518.1:p.Gln288His
ENST00000549450.6:n.1363G>C
ENST00000552161.6:n.2507G>C
ENST00000672797.1:n.1918G>C
ENST00000209873.8:c.1429G>C	ENSP00000209873.4:p.Gly477Arg
ENST00000394384.7:c.1330G>C	ENSP00000377908.3:p.Gly444Arg
ENST00000548931.5:c.864G>C	ENSP00000457518.1:p.Gln288His
ENST00000550286.5:c.1057G>C	ENSP00000446885.1:p.Gly353Arg
ENST00000552876.5:n.1772G>C
NM_001173466.1:c.1330G>C	NP_001166937.1:p.Gly444Arg
NM_015665.5:c.1429G>C	NP_056480.1:p.Gly477Arg
XM_006719617.2:c.1444G>C	XP_006719680.1:p.Gly482Arg
XM_011538777.1:c.1486G>C	XP_011537079.1:p.Gly496Arg
XM_011538778.1:c.1471G>C	XP_011537080.1:p.Gly491Arg
XM_011538779.1:c.1387G>C	XP_011537081.1:p.Gly463Arg
XM_011538780.1:c.1372G>C	XP_011537082.1:p.Gly458Arg
XM_011538781.1:c.820G>C	XP_011537083.1:p.Gly274Arg
XM_011538778.2:c.1471G>C	XP_011537080.1:p.Gly491Arg
XM_011538780.2:c.1372G>C	XP_011537082.1:p.Gly458Arg
XR_001748875.2:n.1486G>C
NM_015665.6:c.1429G>C MANE Select	NP_056480.1:p.Gly477Arg
NM_001173466.2:c.1330G>C	NP_001166937.1:p.Gly444Arg