Canonical Allele Identifier: CA385040293

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702524A>T (hg19) ; chr12:g.53308740A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308740A>T , CM000674.2:g.53308740A>T	GRCh38
NC_000012.11:g.53702524A>T , CM000674.1:g.53702524A>T	GRCh37
NC_000012.10:g.51988791A>T	NCBI36
NG_016775.1:g.17889T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1072T>A MANE Select	ENSP00000209873.4:p.Phe358Ile
ENST00000546562.6:n.2136T>A
ENST00000547238.6:n.1708T>A
ENST00000547520.6:n.1066T>A
ENST00000547757.2:c.121T>A	ENSP00000448020.2:p.Phe41Ile
ENST00000548880.2:n.1522T>A
ENST00000548931.6:c.592T>A	ENSP00000457518.1:p.Phe198Ile
ENST00000549450.6:n.1006T>A
ENST00000552161.6:n.2028T>A
ENST00000672797.1:n.1561T>A
ENST00000672900.1:n.2014T>A
ENST00000209873.8:c.1072T>A	ENSP00000209873.4:p.Phe358Ile
ENST00000394384.7:c.973T>A	ENSP00000377908.3:p.Phe325Ile
ENST00000548931.5:c.592T>A	ENSP00000457518.1:p.Phe198Ile
ENST00000550033.5:n.327T>A
ENST00000550286.5:c.700T>A	ENSP00000446885.1:p.Phe234Ile
ENST00000552876.5:n.1415T>A
NM_001173466.1:c.973T>A	NP_001166937.1:p.Phe325Ile
NM_015665.5:c.1072T>A	NP_056480.1:p.Phe358Ile
XM_006719617.2:c.1087T>A	XP_006719680.1:p.Phe363Ile
XM_011538777.1:c.1087T>A	XP_011537079.1:p.Phe363Ile
XM_011538778.1:c.1072T>A	XP_011537080.1:p.Phe358Ile
XM_011538779.1:c.988T>A	XP_011537081.1:p.Phe330Ile
XM_011538780.1:c.973T>A	XP_011537082.1:p.Phe325Ile
XM_011538781.1:c.421T>A	XP_011537083.1:p.Phe141Ile
XM_011538778.2:c.1072T>A	XP_011537080.1:p.Phe358Ile
XM_011538780.2:c.973T>A	XP_011537082.1:p.Phe325Ile
XR_001748875.2:n.1129T>A
NM_015665.6:c.1072T>A MANE Select	NP_056480.1:p.Phe358Ile
NM_001173466.2:c.973T>A	NP_001166937.1:p.Phe325Ile