Canonical Allele Identifier: CA385040444

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702545G>T (hg19) ; chr12:g.53308761G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308761G>T , CM000674.2:g.53308761G>T	GRCh38
NC_000012.11:g.53702545G>T , CM000674.1:g.53702545G>T	GRCh37
NC_000012.10:g.51988812G>T	NCBI36
NG_016775.1:g.17868C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1051C>A MANE Select	ENSP00000209873.4:p.Pro351Thr
ENST00000546562.6:n.2115C>A
ENST00000547238.6:n.1687C>A
ENST00000547520.6:n.1045C>A
ENST00000547757.2:c.100C>A	ENSP00000448020.2:p.Pro34Thr
ENST00000548880.2:n.1501C>A
ENST00000548931.6:c.571C>A	ENSP00000457518.1:p.Pro191Thr
ENST00000549450.6:n.985C>A
ENST00000552161.6:n.2007C>A
ENST00000672797.1:n.1540C>A
ENST00000672900.1:n.1993C>A
ENST00000209873.8:c.1051C>A	ENSP00000209873.4:p.Pro351Thr
ENST00000394384.7:c.952C>A	ENSP00000377908.3:p.Pro318Thr
ENST00000547520.5:n.755C>A
ENST00000548931.5:c.571C>A	ENSP00000457518.1:p.Pro191Thr
ENST00000550033.5:n.306C>A
ENST00000550286.5:c.679C>A	ENSP00000446885.1:p.Pro227Thr
ENST00000552876.5:n.1394C>A
NM_001173466.1:c.952C>A	NP_001166937.1:p.Pro318Thr
NM_015665.5:c.1051C>A	NP_056480.1:p.Pro351Thr
XM_006719617.2:c.1066C>A	XP_006719680.1:p.Pro356Thr
XM_006719619.2:c.*61C>A	XP_006719682.1:n.*61C>A
XM_011538777.1:c.1066C>A	XP_011537079.1:p.Pro356Thr
XM_011538778.1:c.1051C>A	XP_011537080.1:p.Pro351Thr
XM_011538779.1:c.967C>A	XP_011537081.1:p.Pro323Thr
XM_011538780.1:c.952C>A	XP_011537082.1:p.Pro318Thr
XM_011538781.1:c.400C>A	XP_011537083.1:p.Pro134Thr
XM_011538778.2:c.1051C>A	XP_011537080.1:p.Pro351Thr
XM_011538780.2:c.952C>A	XP_011537082.1:p.Pro318Thr
XR_001748875.2:n.1108C>A
NM_015665.6:c.1051C>A MANE Select	NP_056480.1:p.Pro351Thr
NM_001173466.2:c.952C>A	NP_001166937.1:p.Pro318Thr