Canonical Allele Identifier: CA385040398

Gene: AAAS

Linked Data

• dbSNP Id: rs1316185692
• gnomAD v2: 12-53702539-T-C
• gnomAD v3: 12-53308755-T-C
• gnomAD v4: 12-53308755-T-C
• MyVariant Identifiers: chr12:g.53702539T>C (hg19) ; chr12:g.53308755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308755T>C , CM000674.2:g.53308755T>C	GRCh38
NC_000012.11:g.53702539T>C , CM000674.1:g.53702539T>C	GRCh37
NC_000012.10:g.51988806T>C	NCBI36
NG_016775.1:g.17874A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1057A>G MANE Select	ENSP00000209873.4:p.Ile353Val
ENST00000546562.6:n.2121A>G
ENST00000547238.6:n.1693A>G
ENST00000547520.6:n.1051A>G
ENST00000547757.2:c.106A>G	ENSP00000448020.2:p.Ile36Val
ENST00000548880.2:n.1507A>G
ENST00000548931.6:c.577A>G	ENSP00000457518.1:p.Ile193Val
ENST00000549450.6:n.991A>G
ENST00000552161.6:n.2013A>G
ENST00000672797.1:n.1546A>G
ENST00000672900.1:n.1999A>G
ENST00000209873.8:c.1057A>G	ENSP00000209873.4:p.Ile353Val
ENST00000394384.7:c.958A>G	ENSP00000377908.3:p.Ile320Val
ENST00000547520.5:n.761A>G
ENST00000548931.5:c.577A>G	ENSP00000457518.1:p.Ile193Val
ENST00000550033.5:n.312A>G
ENST00000550286.5:c.685A>G	ENSP00000446885.1:p.Ile229Val
ENST00000552876.5:n.1400A>G
NM_001173466.1:c.958A>G	NP_001166937.1:p.Ile320Val
NM_015665.5:c.1057A>G	NP_056480.1:p.Ile353Val
XM_006719617.2:c.1072A>G	XP_006719680.1:p.Ile358Val
XM_011538777.1:c.1072A>G	XP_011537079.1:p.Ile358Val
XM_011538778.1:c.1057A>G	XP_011537080.1:p.Ile353Val
XM_011538779.1:c.973A>G	XP_011537081.1:p.Ile325Val
XM_011538780.1:c.958A>G	XP_011537082.1:p.Ile320Val
XM_011538781.1:c.406A>G	XP_011537083.1:p.Ile136Val
XM_011538778.2:c.1057A>G	XP_011537080.1:p.Ile353Val
XM_011538780.2:c.958A>G	XP_011537082.1:p.Ile320Val
XR_001748875.2:n.1114A>G
NM_015665.6:c.1057A>G MANE Select	NP_056480.1:p.Ile353Val
NM_001173466.2:c.958A>G	NP_001166937.1:p.Ile320Val