Canonical Allele Identifier: CA385041056

Gene: AAAS

Linked Data

• dbSNP Id: rs560069464
• MyVariant Identifiers: chr12:g.53702752G>C (hg19) ; chr12:g.53308968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308968G>C , CM000674.2:g.53308968G>C	GRCh38
NC_000012.11:g.53702752G>C , CM000674.1:g.53702752G>C	GRCh37
NC_000012.10:g.51989019G>C	NCBI36
NG_016775.1:g.17661C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.988C>G MANE Select	ENSP00000209873.4:p.Arg330Gly
ENST00000546393.7:n.1833C>G
ENST00000546562.6:n.2052C>G
ENST00000547238.6:n.1624C>G
ENST00000547520.6:n.982C>G
ENST00000547757.2:c.37C>G	ENSP00000448020.2:p.Arg13Gly
ENST00000548880.2:n.1438C>G
ENST00000548931.6:c.508C>G	ENSP00000457518.1:p.Arg170Gly
ENST00000549450.6:n.922C>G
ENST00000552161.6:n.1944C>G
ENST00000672797.1:n.1441C>G
ENST00000672900.1:n.1786C>G
ENST00000209873.8:c.988C>G	ENSP00000209873.4:p.Arg330Gly
ENST00000394384.7:c.889C>G	ENSP00000377908.3:p.Arg297Gly
ENST00000546572.1:n.576C>G
ENST00000547520.5:n.692C>G
ENST00000548931.5:c.508C>G	ENSP00000457518.1:p.Arg170Gly
ENST00000550033.5:n.243C>G
ENST00000550286.5:c.616C>G	ENSP00000446885.1:p.Arg206Gly
ENST00000552876.5:n.1331C>G
NM_001173466.1:c.889C>G	NP_001166937.1:p.Arg297Gly
NM_015665.5:c.988C>G	NP_056480.1:p.Arg330Gly
XM_006719617.2:c.1003C>G	XP_006719680.1:p.Arg335Gly
XM_006719619.2:c.1003C>G	XP_006719682.1:p.Arg335Gly
XM_011538777.1:c.1003C>G	XP_011537079.1:p.Arg335Gly
XM_011538778.1:c.988C>G	XP_011537080.1:p.Arg330Gly
XM_011538779.1:c.904C>G	XP_011537081.1:p.Arg302Gly
XM_011538780.1:c.889C>G	XP_011537082.1:p.Arg297Gly
XM_011538781.1:c.337C>G	XP_011537083.1:p.Arg113Gly
XM_011538778.2:c.988C>G	XP_011537080.1:p.Arg330Gly
XM_011538780.2:c.889C>G	XP_011537082.1:p.Arg297Gly
XR_001748875.2:n.1009C>G
NM_015665.6:c.988C>G MANE Select	NP_056480.1:p.Arg330Gly
NM_001173466.2:c.889C>G	NP_001166937.1:p.Arg297Gly