Canonical Allele Identifier: CA385040221

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308733-T-C
• MyVariant Identifiers: chr12:g.53702517T>C (hg19) ; chr12:g.53308733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308733T>C , CM000674.2:g.53308733T>C	GRCh38
NC_000012.11:g.53702517T>C , CM000674.1:g.53702517T>C	GRCh37
NC_000012.10:g.51988784T>C	NCBI36
NG_016775.1:g.17896A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1079A>G MANE Select	ENSP00000209873.4:p.Glu360Gly
ENST00000546562.6:n.2143A>G
ENST00000547238.6:n.1715A>G
ENST00000547520.6:n.1073A>G
ENST00000547757.2:c.128A>G	ENSP00000448020.2:p.Glu43Gly
ENST00000548880.2:n.1529A>G
ENST00000548931.6:c.599A>G	ENSP00000457518.1:p.Glu200Gly
ENST00000549450.6:n.1013A>G
ENST00000552161.6:n.2035A>G
ENST00000672797.1:n.1568A>G
ENST00000672900.1:n.2021A>G
ENST00000209873.8:c.1079A>G	ENSP00000209873.4:p.Glu360Gly
ENST00000394384.7:c.980A>G	ENSP00000377908.3:p.Glu327Gly
ENST00000548931.5:c.599A>G	ENSP00000457518.1:p.Glu200Gly
ENST00000550033.5:n.334A>G
ENST00000550286.5:c.707A>G	ENSP00000446885.1:p.Glu236Gly
ENST00000552876.5:n.1422A>G
NM_001173466.1:c.980A>G	NP_001166937.1:p.Glu327Gly
NM_015665.5:c.1079A>G	NP_056480.1:p.Glu360Gly
XM_006719617.2:c.1094A>G	XP_006719680.1:p.Glu365Gly
XM_011538777.1:c.1094A>G	XP_011537079.1:p.Glu365Gly
XM_011538778.1:c.1079A>G	XP_011537080.1:p.Glu360Gly
XM_011538779.1:c.995A>G	XP_011537081.1:p.Glu332Gly
XM_011538780.1:c.980A>G	XP_011537082.1:p.Glu327Gly
XM_011538781.1:c.428A>G	XP_011537083.1:p.Glu143Gly
XM_011538778.2:c.1079A>G	XP_011537080.1:p.Glu360Gly
XM_011538780.2:c.980A>G	XP_011537082.1:p.Glu327Gly
XR_001748875.2:n.1136A>G
NM_015665.6:c.1079A>G MANE Select	NP_056480.1:p.Glu360Gly
NM_001173466.2:c.980A>G	NP_001166937.1:p.Glu327Gly