Canonical Allele Identifier: CA385040533

Gene: AAAS

Linked Data

• dbSNP Id: rs1265409331
• gnomAD v3: 12-53308772-A-C
• gnomAD v4: 12-53308772-A-C
• MyVariant Identifiers: chr12:g.53702556A>C (hg19) ; chr12:g.53308772A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308772A>C , CM000674.2:g.53308772A>C	GRCh38
NC_000012.11:g.53702556A>C , CM000674.1:g.53702556A>C	GRCh37
NC_000012.10:g.51988823A>C	NCBI36
NG_016775.1:g.17857T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1040T>G MANE Select	ENSP00000209873.4:p.Val347Gly
ENST00000546562.6:n.2104T>G
ENST00000547238.6:n.1676T>G
ENST00000547520.6:n.1034T>G
ENST00000547757.2:c.89T>G	ENSP00000448020.2:p.Val30Gly
ENST00000548880.2:n.1490T>G
ENST00000548931.6:c.560T>G	ENSP00000457518.1:p.Val187Gly
ENST00000549450.6:n.974T>G
ENST00000552161.6:n.1996T>G
ENST00000672797.1:n.1529T>G
ENST00000672900.1:n.1982T>G
ENST00000209873.8:c.1040T>G	ENSP00000209873.4:p.Val347Gly
ENST00000394384.7:c.941T>G	ENSP00000377908.3:p.Val314Gly
ENST00000547520.5:n.744T>G
ENST00000548931.5:c.560T>G	ENSP00000457518.1:p.Val187Gly
ENST00000550033.5:n.295T>G
ENST00000550286.5:c.668T>G	ENSP00000446885.1:p.Val223Gly
ENST00000552876.5:n.1383T>G
NM_001173466.1:c.941T>G	NP_001166937.1:p.Val314Gly
NM_015665.5:c.1040T>G	NP_056480.1:p.Val347Gly
XM_006719617.2:c.1055T>G	XP_006719680.1:p.Val352Gly
XM_006719619.2:c.*50T>G	XP_006719682.1:n.*50T>G
XM_011538777.1:c.1055T>G	XP_011537079.1:p.Val352Gly
XM_011538778.1:c.1040T>G	XP_011537080.1:p.Val347Gly
XM_011538779.1:c.956T>G	XP_011537081.1:p.Val319Gly
XM_011538780.1:c.941T>G	XP_011537082.1:p.Val314Gly
XM_011538781.1:c.389T>G	XP_011537083.1:p.Val130Gly
XM_011538778.2:c.1040T>G	XP_011537080.1:p.Val347Gly
XM_011538780.2:c.941T>G	XP_011537082.1:p.Val314Gly
XR_001748875.2:n.1097T>G
NM_015665.6:c.1040T>G MANE Select	NP_056480.1:p.Val347Gly
NM_001173466.2:c.941T>G	NP_001166937.1:p.Val314Gly