Canonical Allele Identifier: CA479918622

Gene: AAAS

Linked Data

• gnomAD v4: 12-53309011-C-T
• MyVariant Identifiers: chr12:g.53702795C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309011C>T , CM000674.2:g.53309011C>T	GRCh38
NC_000012.11:g.53702795C>T , CM000674.1:g.53702795C>T	GRCh37
NC_000012.10:g.51989062C>T	NCBI36
NG_016775.1:g.17618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.945G>A MANE Select	ENSP00000209873.4:p.Glu315=
ENST00000546393.7:n.1790G>A
ENST00000546562.6:n.2009G>A
ENST00000547238.6:n.1581G>A
ENST00000547520.6:n.939G>A
ENST00000547757.2:c.-7G>A	ENSP00000448020.2:n.-7G>A
ENST00000548880.2:n.1395G>A
ENST00000548931.6:c.465G>A	ENSP00000457518.1:p.Glu155=
ENST00000549450.6:n.879G>A
ENST00000552161.6:n.1901G>A
ENST00000672797.1:n.1398G>A
ENST00000672900.1:n.1743G>A
ENST00000209873.8:c.945G>A	ENSP00000209873.4:p.Glu315=
ENST00000394384.7:c.846G>A	ENSP00000377908.3:p.Glu282=
ENST00000546572.1:n.533G>A
ENST00000547520.5:n.649G>A
ENST00000548931.5:c.465G>A	ENSP00000457518.1:p.Glu155=
ENST00000550033.5:n.200G>A
ENST00000550286.5:c.573G>A	ENSP00000446885.1:p.Glu191=
ENST00000552876.5:n.1288G>A
NM_001173466.1:c.846G>A	NP_001166937.1:p.Glu282=
NM_015665.5:c.945G>A	NP_056480.1:p.Glu315=
XM_006719617.2:c.960G>A	XP_006719680.1:p.Glu320=
XM_006719619.2:c.960G>A	XP_006719682.1:p.Glu320=
XM_011538777.1:c.960G>A	XP_011537079.1:p.Glu320=
XM_011538778.1:c.945G>A	XP_011537080.1:p.Glu315=
XM_011538779.1:c.861G>A	XP_011537081.1:p.Glu287=
XM_011538780.1:c.846G>A	XP_011537082.1:p.Glu282=
XM_011538781.1:c.294G>A	XP_011537083.1:p.Glu98=
XM_011538778.2:c.945G>A	XP_011537080.1:p.Glu315=
XM_011538780.2:c.846G>A	XP_011537082.1:p.Glu282=
XR_001748875.2:n.966G>A
NM_015665.6:c.945G>A MANE Select	NP_056480.1:p.Glu315=
NM_001173466.2:c.846G>A	NP_001166937.1:p.Glu282=