Canonical Allele Identifier: CA385037329

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701479T>A (hg19) ; chr12:g.53307695T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307695T>A , CM000674.2:g.53307695T>A	GRCh38
NC_000012.11:g.53701479T>A , CM000674.1:g.53701479T>A	GRCh37
NC_000012.10:g.51987746T>A	NCBI36
NG_016775.1:g.18934A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1435A>T MANE Select	ENSP00000209873.4:p.Ile479Phe
ENST00000546562.6:n.2499A>T
ENST00000547238.6:n.2071A>T
ENST00000547520.6:n.1551A>T
ENST00000547757.2:c.*353A>T	ENSP00000448020.2:n.*353A>T
ENST00000548880.2:n.1885A>T
ENST00000548931.6:c.870A>T	ENSP00000457518.1:p.Glu290Asp
ENST00000549450.6:n.1369A>T
ENST00000552161.6:n.2513A>T
ENST00000672797.1:n.1924A>T
ENST00000209873.8:c.1435A>T	ENSP00000209873.4:p.Ile479Phe
ENST00000394384.7:c.1336A>T	ENSP00000377908.3:p.Ile446Phe
ENST00000548931.5:c.870A>T	ENSP00000457518.1:p.Glu290Asp
ENST00000550286.5:c.1063A>T	ENSP00000446885.1:p.Ile355Phe
ENST00000552876.5:n.1778A>T
NM_001173466.1:c.1336A>T	NP_001166937.1:p.Ile446Phe
NM_015665.5:c.1435A>T	NP_056480.1:p.Ile479Phe
XM_006719617.2:c.1450A>T	XP_006719680.1:p.Ile484Phe
XM_011538777.1:c.1492A>T	XP_011537079.1:p.Ile498Phe
XM_011538778.1:c.1477A>T	XP_011537080.1:p.Ile493Phe
XM_011538779.1:c.1393A>T	XP_011537081.1:p.Ile465Phe
XM_011538780.1:c.1378A>T	XP_011537082.1:p.Ile460Phe
XM_011538781.1:c.826A>T	XP_011537083.1:p.Ile276Phe
XM_011538778.2:c.1477A>T	XP_011537080.1:p.Ile493Phe
XM_011538780.2:c.1378A>T	XP_011537082.1:p.Ile460Phe
XR_001748875.2:n.1492A>T
NM_015665.6:c.1435A>T MANE Select	NP_056480.1:p.Ile479Phe
NM_001173466.2:c.1336A>T	NP_001166937.1:p.Ile446Phe