Canonical Allele Identifier: CA385035284

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701399A>T (hg19) ; chr12:g.53307615A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307615A>T , CM000674.2:g.53307615A>T	GRCh38
NC_000012.11:g.53701399A>T , CM000674.1:g.53701399A>T	GRCh37
NC_000012.10:g.51987666A>T	NCBI36
NG_016775.1:g.19014T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1515T>A MANE Select	ENSP00000209873.4:p.Pro505=
ENST00000546562.6:n.2579T>A
ENST00000547238.6:n.2151T>A
ENST00000547520.6:n.1631T>A
ENST00000547757.2:c.*433T>A	ENSP00000448020.2:n.*433T>A
ENST00000548931.6:c.950T>A	ENSP00000457518.1:p.Leu317Gln
ENST00000549450.6:n.1449T>A
ENST00000672797.1:n.2004T>A
ENST00000209873.8:c.1515T>A	ENSP00000209873.4:p.Pro505=
ENST00000394384.7:c.1416T>A	ENSP00000377908.3:p.Pro472=
ENST00000548931.5:c.950T>A	ENSP00000457518.1:p.Leu317Gln
ENST00000550286.5:c.1143T>A	ENSP00000446885.1:p.Pro381=
ENST00000552876.5:n.1858T>A
NM_001173466.1:c.1416T>A	NP_001166937.1:p.Pro472=
NM_015665.5:c.1515T>A	NP_056480.1:p.Pro505=
XM_006719617.2:c.1530T>A	XP_006719680.1:p.Pro510=
XM_011538777.1:c.1572T>A	XP_011537079.1:p.Pro524=
XM_011538778.1:c.1557T>A	XP_011537080.1:p.Pro519=
XM_011538779.1:c.1473T>A	XP_011537081.1:p.Pro491=
XM_011538780.1:c.1458T>A	XP_011537082.1:p.Pro486=
XM_011538781.1:c.906T>A	XP_011537083.1:p.Pro302=
XM_011538778.2:c.1557T>A	XP_011537080.1:p.Pro519=
XM_011538780.2:c.1458T>A	XP_011537082.1:p.Pro486=
XR_001748875.2:n.1572T>A
NM_015665.6:c.1515T>A MANE Select	NP_056480.1:p.Pro505=
NM_001173466.2:c.1416T>A	NP_001166937.1:p.Pro472=