Canonical Allele Identifier: CA385041244

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308991-T-G
• MyVariant Identifiers: chr12:g.53702775T>G (hg19) ; chr12:g.53308991T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308991T>G , CM000674.2:g.53308991T>G	GRCh38
NC_000012.11:g.53702775T>G , CM000674.1:g.53702775T>G	GRCh37
NC_000012.10:g.51989042T>G	NCBI36
NG_016775.1:g.17638A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.965A>C MANE Select	ENSP00000209873.4:p.Glu322Ala
ENST00000546393.7:n.1810A>C
ENST00000546562.6:n.2029A>C
ENST00000547238.6:n.1601A>C
ENST00000547520.6:n.959A>C
ENST00000547757.2:c.14A>C	ENSP00000448020.2:p.Glu5Ala
ENST00000548880.2:n.1415A>C
ENST00000548931.6:c.485A>C	ENSP00000457518.1:p.Glu162Ala
ENST00000549450.6:n.899A>C
ENST00000552161.6:n.1921A>C
ENST00000672797.1:n.1418A>C
ENST00000672900.1:n.1763A>C
ENST00000209873.8:c.965A>C	ENSP00000209873.4:p.Glu322Ala
ENST00000394384.7:c.866A>C	ENSP00000377908.3:p.Glu289Ala
ENST00000546572.1:n.553A>C
ENST00000547520.5:n.669A>C
ENST00000548931.5:c.485A>C	ENSP00000457518.1:p.Glu162Ala
ENST00000550033.5:n.220A>C
ENST00000550286.5:c.593A>C	ENSP00000446885.1:p.Glu198Ala
ENST00000552876.5:n.1308A>C
NM_001173466.1:c.866A>C	NP_001166937.1:p.Glu289Ala
NM_015665.5:c.965A>C	NP_056480.1:p.Glu322Ala
XM_006719617.2:c.980A>C	XP_006719680.1:p.Glu327Ala
XM_006719619.2:c.980A>C	XP_006719682.1:p.Glu327Ala
XM_011538777.1:c.980A>C	XP_011537079.1:p.Glu327Ala
XM_011538778.1:c.965A>C	XP_011537080.1:p.Glu322Ala
XM_011538779.1:c.881A>C	XP_011537081.1:p.Glu294Ala
XM_011538780.1:c.866A>C	XP_011537082.1:p.Glu289Ala
XM_011538781.1:c.314A>C	XP_011537083.1:p.Glu105Ala
XM_011538778.2:c.965A>C	XP_011537080.1:p.Glu322Ala
XM_011538780.2:c.866A>C	XP_011537082.1:p.Glu289Ala
XR_001748875.2:n.986A>C
NM_015665.6:c.965A>C MANE Select	NP_056480.1:p.Glu322Ala
NM_001173466.2:c.866A>C	NP_001166937.1:p.Glu289Ala