Canonical Allele Identifier: CA385038736

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701885T>C (hg19) ; chr12:g.53308101T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308101T>C , CM000674.2:g.53308101T>C	GRCh38
NC_000012.11:g.53701885T>C , CM000674.1:g.53701885T>C	GRCh37
NC_000012.10:g.51988152T>C	NCBI36
NG_016775.1:g.18528A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1282A>G MANE Select	ENSP00000209873.4:p.Ile428Val
ENST00000546562.6:n.2346A>G
ENST00000547238.6:n.1918A>G
ENST00000547520.6:n.1276A>G
ENST00000547757.2:c.331A>G	ENSP00000448020.2:p.Ile111Val
ENST00000548880.2:n.1732A>G
ENST00000548931.6:c.802A>G	ENSP00000457518.1:p.Ile268Val
ENST00000549450.6:n.1216A>G
ENST00000552161.6:n.2238A>G
ENST00000672797.1:n.1771A>G
ENST00000672900.1:n.2372A>G
ENST00000209873.8:c.1282A>G	ENSP00000209873.4:p.Ile428Val
ENST00000394384.7:c.1183A>G	ENSP00000377908.3:p.Ile395Val
ENST00000548931.5:c.802A>G	ENSP00000457518.1:p.Ile268Val
ENST00000550033.5:n.537A>G
ENST00000550286.5:c.910A>G	ENSP00000446885.1:p.Ile304Val
ENST00000552876.5:n.1625A>G
NM_001173466.1:c.1183A>G	NP_001166937.1:p.Ile395Val
NM_015665.5:c.1282A>G	NP_056480.1:p.Ile428Val
XM_006719617.2:c.1297A>G	XP_006719680.1:p.Ile433Val
XM_011538777.1:c.1297A>G	XP_011537079.1:p.Ile433Val
XM_011538778.1:c.1282A>G	XP_011537080.1:p.Ile428Val
XM_011538779.1:c.1198A>G	XP_011537081.1:p.Ile400Val
XM_011538780.1:c.1183A>G	XP_011537082.1:p.Ile395Val
XM_011538781.1:c.631A>G	XP_011537083.1:p.Ile211Val
XM_011538778.2:c.1282A>G	XP_011537080.1:p.Ile428Val
XM_011538780.2:c.1183A>G	XP_011537082.1:p.Ile395Val
XR_001748875.2:n.1339A>G
NM_015665.6:c.1282A>G MANE Select	NP_056480.1:p.Ile428Val
NM_001173466.2:c.1183A>G	NP_001166937.1:p.Ile395Val