Canonical Allele Identifier: CA479918475

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702750G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308966G>T , CM000674.2:g.53308966G>T	GRCh38
NC_000012.11:g.53702750G>T , CM000674.1:g.53702750G>T	GRCh37
NC_000012.10:g.51989017G>T	NCBI36
NG_016775.1:g.17663C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.990C>A MANE Select	ENSP00000209873.4:p.Arg330=
ENST00000546393.7:n.1835C>A
ENST00000546562.6:n.2054C>A
ENST00000547238.6:n.1626C>A
ENST00000547520.6:n.984C>A
ENST00000547757.2:c.39C>A	ENSP00000448020.2:p.Arg13=
ENST00000548880.2:n.1440C>A
ENST00000548931.6:c.510C>A	ENSP00000457518.1:p.Arg170=
ENST00000549450.6:n.924C>A
ENST00000552161.6:n.1946C>A
ENST00000672797.1:n.1443C>A
ENST00000672900.1:n.1788C>A
ENST00000209873.8:c.990C>A	ENSP00000209873.4:p.Arg330=
ENST00000394384.7:c.891C>A	ENSP00000377908.3:p.Arg297=
ENST00000546572.1:n.578C>A
ENST00000547520.5:n.694C>A
ENST00000548931.5:c.510C>A	ENSP00000457518.1:p.Arg170=
ENST00000550033.5:n.245C>A
ENST00000550286.5:c.618C>A	ENSP00000446885.1:p.Arg206=
ENST00000552876.5:n.1333C>A
NM_001173466.1:c.891C>A	NP_001166937.1:p.Arg297=
NM_015665.5:c.990C>A	NP_056480.1:p.Arg330=
XM_006719617.2:c.1005C>A	XP_006719680.1:p.Arg335=
XM_006719619.2:c.1005C>A	XP_006719682.1:p.Arg335=
XM_011538777.1:c.1005C>A	XP_011537079.1:p.Arg335=
XM_011538778.1:c.990C>A	XP_011537080.1:p.Arg330=
XM_011538779.1:c.906C>A	XP_011537081.1:p.Arg302=
XM_011538780.1:c.891C>A	XP_011537082.1:p.Arg297=
XM_011538781.1:c.339C>A	XP_011537083.1:p.Arg113=
XM_011538778.2:c.990C>A	XP_011537080.1:p.Arg330=
XM_011538780.2:c.891C>A	XP_011537082.1:p.Arg297=
XR_001748875.2:n.1011C>A
NM_015665.6:c.990C>A MANE Select	NP_056480.1:p.Arg330=
NM_001173466.2:c.891C>A	NP_001166937.1:p.Arg297=