Canonical Allele Identifier: CA479918427

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702543T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308759T>A , CM000674.2:g.53308759T>A	GRCh38
NC_000012.11:g.53702543T>A , CM000674.1:g.53702543T>A	GRCh37
NC_000012.10:g.51988810T>A	NCBI36
NG_016775.1:g.17870A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1053A>T MANE Select	ENSP00000209873.4:p.Pro351=
ENST00000546562.6:n.2117A>T
ENST00000547238.6:n.1689A>T
ENST00000547520.6:n.1047A>T
ENST00000547757.2:c.102A>T	ENSP00000448020.2:p.Pro34=
ENST00000548880.2:n.1503A>T
ENST00000548931.6:c.573A>T	ENSP00000457518.1:p.Pro191=
ENST00000549450.6:n.987A>T
ENST00000552161.6:n.2009A>T
ENST00000672797.1:n.1542A>T
ENST00000672900.1:n.1995A>T
ENST00000209873.8:c.1053A>T	ENSP00000209873.4:p.Pro351=
ENST00000394384.7:c.954A>T	ENSP00000377908.3:p.Pro318=
ENST00000547520.5:n.757A>T
ENST00000548931.5:c.573A>T	ENSP00000457518.1:p.Pro191=
ENST00000550033.5:n.308A>T
ENST00000550286.5:c.681A>T	ENSP00000446885.1:p.Pro227=
ENST00000552876.5:n.1396A>T
NM_001173466.1:c.954A>T	NP_001166937.1:p.Pro318=
NM_015665.5:c.1053A>T	NP_056480.1:p.Pro351=
XM_006719617.2:c.1068A>T	XP_006719680.1:p.Pro356=
XM_006719619.2:c.*63A>T	XP_006719682.1:n.*63A>T
XM_011538777.1:c.1068A>T	XP_011537079.1:p.Pro356=
XM_011538778.1:c.1053A>T	XP_011537080.1:p.Pro351=
XM_011538779.1:c.969A>T	XP_011537081.1:p.Pro323=
XM_011538780.1:c.954A>T	XP_011537082.1:p.Pro318=
XM_011538781.1:c.402A>T	XP_011537083.1:p.Pro134=
XM_011538778.2:c.1053A>T	XP_011537080.1:p.Pro351=
XM_011538780.2:c.954A>T	XP_011537082.1:p.Pro318=
XR_001748875.2:n.1110A>T
NM_015665.6:c.1053A>T MANE Select	NP_056480.1:p.Pro351=
NM_001173466.2:c.954A>T	NP_001166937.1:p.Pro318=