Canonical Allele Identifier: CA385040265

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702521G>T (hg19) ; chr12:g.53308737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308737G>T , CM000674.2:g.53308737G>T	GRCh38
NC_000012.11:g.53702521G>T , CM000674.1:g.53702521G>T	GRCh37
NC_000012.10:g.51988788G>T	NCBI36
NG_016775.1:g.17892C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1075C>A MANE Select	ENSP00000209873.4:p.Pro359Thr
ENST00000546562.6:n.2139C>A
ENST00000547238.6:n.1711C>A
ENST00000547520.6:n.1069C>A
ENST00000547757.2:c.124C>A	ENSP00000448020.2:p.Pro42Thr
ENST00000548880.2:n.1525C>A
ENST00000548931.6:c.595C>A	ENSP00000457518.1:p.Pro199Thr
ENST00000549450.6:n.1009C>A
ENST00000552161.6:n.2031C>A
ENST00000672797.1:n.1564C>A
ENST00000672900.1:n.2017C>A
ENST00000209873.8:c.1075C>A	ENSP00000209873.4:p.Pro359Thr
ENST00000394384.7:c.976C>A	ENSP00000377908.3:p.Pro326Thr
ENST00000548931.5:c.595C>A	ENSP00000457518.1:p.Pro199Thr
ENST00000550033.5:n.330C>A
ENST00000550286.5:c.703C>A	ENSP00000446885.1:p.Pro235Thr
ENST00000552876.5:n.1418C>A
NM_001173466.1:c.976C>A	NP_001166937.1:p.Pro326Thr
NM_015665.5:c.1075C>A	NP_056480.1:p.Pro359Thr
XM_006719617.2:c.1090C>A	XP_006719680.1:p.Pro364Thr
XM_011538777.1:c.1090C>A	XP_011537079.1:p.Pro364Thr
XM_011538778.1:c.1075C>A	XP_011537080.1:p.Pro359Thr
XM_011538779.1:c.991C>A	XP_011537081.1:p.Pro331Thr
XM_011538780.1:c.976C>A	XP_011537082.1:p.Pro326Thr
XM_011538781.1:c.424C>A	XP_011537083.1:p.Pro142Thr
XM_011538778.2:c.1075C>A	XP_011537080.1:p.Pro359Thr
XM_011538780.2:c.976C>A	XP_011537082.1:p.Pro326Thr
XR_001748875.2:n.1132C>A
NM_015665.6:c.1075C>A MANE Select	NP_056480.1:p.Pro359Thr
NM_001173466.2:c.976C>A	NP_001166937.1:p.Pro326Thr