Canonical Allele Identifier: CA385036861

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701438T>A (hg19) ; chr12:g.53307654T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307654T>A , CM000674.2:g.53307654T>A	GRCh38
NC_000012.11:g.53701438T>A , CM000674.1:g.53701438T>A	GRCh37
NC_000012.10:g.51987705T>A	NCBI36
NG_016775.1:g.18975A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1476A>T MANE Select	ENSP00000209873.4:p.Pro492=
ENST00000546562.6:n.2540A>T
ENST00000547238.6:n.2112A>T
ENST00000547520.6:n.1592A>T
ENST00000547757.2:c.*394A>T	ENSP00000448020.2:n.*394A>T
ENST00000548880.2:n.1926A>T
ENST00000548931.6:c.911A>T	ENSP00000457518.1:p.His304Leu
ENST00000549450.6:n.1410A>T
ENST00000552161.6:n.2554A>T
ENST00000672797.1:n.1965A>T
ENST00000209873.8:c.1476A>T	ENSP00000209873.4:p.Pro492=
ENST00000394384.7:c.1377A>T	ENSP00000377908.3:p.Pro459=
ENST00000548931.5:c.911A>T	ENSP00000457518.1:p.His304Leu
ENST00000550286.5:c.1104A>T	ENSP00000446885.1:p.Pro368=
ENST00000552876.5:n.1819A>T
NM_001173466.1:c.1377A>T	NP_001166937.1:p.Pro459=
NM_015665.5:c.1476A>T	NP_056480.1:p.Pro492=
XM_006719617.2:c.1491A>T	XP_006719680.1:p.Pro497=
XM_011538777.1:c.1533A>T	XP_011537079.1:p.Pro511=
XM_011538778.1:c.1518A>T	XP_011537080.1:p.Pro506=
XM_011538779.1:c.1434A>T	XP_011537081.1:p.Pro478=
XM_011538780.1:c.1419A>T	XP_011537082.1:p.Pro473=
XM_011538781.1:c.867A>T	XP_011537083.1:p.Pro289=
XM_011538778.2:c.1518A>T	XP_011537080.1:p.Pro506=
XM_011538780.2:c.1419A>T	XP_011537082.1:p.Pro473=
XR_001748875.2:n.1533A>T
NM_015665.6:c.1476A>T MANE Select	NP_056480.1:p.Pro492=
NM_001173466.2:c.1377A>T	NP_001166937.1:p.Pro459=