Canonical Allele Identifier: CA385035180

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307596-T-C
• MyVariant Identifiers: chr12:g.53701380T>C (hg19) ; chr12:g.53307596T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307596T>C , CM000674.2:g.53307596T>C	GRCh38
NC_000012.11:g.53701380T>C , CM000674.1:g.53701380T>C	GRCh37
NC_000012.10:g.51987647T>C	NCBI36
NG_016775.1:g.19033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1534A>G MANE Select	ENSP00000209873.4:p.Ile512Val
ENST00000546562.6:n.2598A>G
ENST00000547238.6:n.2170A>G
ENST00000547520.6:n.1650A>G
ENST00000547757.2:c.*452A>G	ENSP00000448020.2:n.*452A>G
ENST00000548931.6:c.969A>G	ENSP00000457518.1:p.Leu323=
ENST00000549450.6:n.1468A>G
ENST00000672797.1:n.2023A>G
ENST00000209873.8:c.1534A>G	ENSP00000209873.4:p.Ile512Val
ENST00000394384.7:c.1435A>G	ENSP00000377908.3:p.Ile479Val
ENST00000548931.5:c.969A>G	ENSP00000457518.1:p.Leu323=
ENST00000550286.5:c.1162A>G	ENSP00000446885.1:p.Ile388Val
ENST00000552876.5:n.1877A>G
NM_001173466.1:c.1435A>G	NP_001166937.1:p.Ile479Val
NM_015665.5:c.1534A>G	NP_056480.1:p.Ile512Val
XM_006719617.2:c.1549A>G	XP_006719680.1:p.Ile517Val
XM_011538777.1:c.1591A>G	XP_011537079.1:p.Ile531Val
XM_011538778.1:c.1576A>G	XP_011537080.1:p.Ile526Val
XM_011538779.1:c.1492A>G	XP_011537081.1:p.Ile498Val
XM_011538780.1:c.1477A>G	XP_011537082.1:p.Ile493Val
XM_011538781.1:c.925A>G	XP_011537083.1:p.Ile309Val
XM_011538778.2:c.1576A>G	XP_011537080.1:p.Ile526Val
XM_011538780.2:c.1477A>G	XP_011537082.1:p.Ile493Val
XR_001748875.2:n.1591A>G
NM_015665.6:c.1534A>G MANE Select	NP_056480.1:p.Ile512Val
NM_001173466.2:c.1435A>G	NP_001166937.1:p.Ile479Val