Canonical Allele Identifier: CA385037251

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307686-T-C
• MyVariant Identifiers: chr12:g.53701470T>C (hg19) ; chr12:g.53307686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307686T>C , CM000674.2:g.53307686T>C	GRCh38
NC_000012.11:g.53701470T>C , CM000674.1:g.53701470T>C	GRCh37
NC_000012.10:g.51987737T>C	NCBI36
NG_016775.1:g.18943A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1444A>G MANE Select	ENSP00000209873.4:p.Ile482Val
ENST00000546562.6:n.2508A>G
ENST00000547238.6:n.2080A>G
ENST00000547520.6:n.1560A>G
ENST00000547757.2:c.*362A>G	ENSP00000448020.2:n.*362A>G
ENST00000548880.2:n.1894A>G
ENST00000548931.6:c.879A>G	ENSP00000457518.1:p.Thr293=
ENST00000549450.6:n.1378A>G
ENST00000552161.6:n.2522A>G
ENST00000672797.1:n.1933A>G
ENST00000209873.8:c.1444A>G	ENSP00000209873.4:p.Ile482Val
ENST00000394384.7:c.1345A>G	ENSP00000377908.3:p.Ile449Val
ENST00000548931.5:c.879A>G	ENSP00000457518.1:p.Thr293=
ENST00000550286.5:c.1072A>G	ENSP00000446885.1:p.Ile358Val
ENST00000552876.5:n.1787A>G
NM_001173466.1:c.1345A>G	NP_001166937.1:p.Ile449Val
NM_015665.5:c.1444A>G	NP_056480.1:p.Ile482Val
XM_006719617.2:c.1459A>G	XP_006719680.1:p.Ile487Val
XM_011538777.1:c.1501A>G	XP_011537079.1:p.Ile501Val
XM_011538778.1:c.1486A>G	XP_011537080.1:p.Ile496Val
XM_011538779.1:c.1402A>G	XP_011537081.1:p.Ile468Val
XM_011538780.1:c.1387A>G	XP_011537082.1:p.Ile463Val
XM_011538781.1:c.835A>G	XP_011537083.1:p.Ile279Val
XM_011538778.2:c.1486A>G	XP_011537080.1:p.Ile496Val
XM_011538780.2:c.1387A>G	XP_011537082.1:p.Ile463Val
XR_001748875.2:n.1501A>G
NM_015665.6:c.1444A>G MANE Select	NP_056480.1:p.Ile482Val
NM_001173466.2:c.1345A>G	NP_001166937.1:p.Ile449Val