Canonical Allele Identifier: CA385035298

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701402G>T (hg19) ; chr12:g.53307618G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307618G>T , CM000674.2:g.53307618G>T	GRCh38
NC_000012.11:g.53701402G>T , CM000674.1:g.53701402G>T	GRCh37
NC_000012.10:g.51987669G>T	NCBI36
NG_016775.1:g.19011C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1512C>A MANE Select	ENSP00000209873.4:p.Pro504=
ENST00000546562.6:n.2576C>A
ENST00000547238.6:n.2148C>A
ENST00000547520.6:n.1628C>A
ENST00000547757.2:c.*430C>A	ENSP00000448020.2:n.*430C>A
ENST00000548931.6:c.947C>A	ENSP00000457518.1:p.Pro316His
ENST00000549450.6:n.1446C>A
ENST00000672797.1:n.2001C>A
ENST00000209873.8:c.1512C>A	ENSP00000209873.4:p.Pro504=
ENST00000394384.7:c.1413C>A	ENSP00000377908.3:p.Pro471=
ENST00000548931.5:c.947C>A	ENSP00000457518.1:p.Pro316His
ENST00000550286.5:c.1140C>A	ENSP00000446885.1:p.Pro380=
ENST00000552876.5:n.1855C>A
NM_001173466.1:c.1413C>A	NP_001166937.1:p.Pro471=
NM_015665.5:c.1512C>A	NP_056480.1:p.Pro504=
XM_006719617.2:c.1527C>A	XP_006719680.1:p.Pro509=
XM_011538777.1:c.1569C>A	XP_011537079.1:p.Pro523=
XM_011538778.1:c.1554C>A	XP_011537080.1:p.Pro518=
XM_011538779.1:c.1470C>A	XP_011537081.1:p.Pro490=
XM_011538780.1:c.1455C>A	XP_011537082.1:p.Pro485=
XM_011538781.1:c.903C>A	XP_011537083.1:p.Pro301=
XM_011538778.2:c.1554C>A	XP_011537080.1:p.Pro518=
XM_011538780.2:c.1455C>A	XP_011537082.1:p.Pro485=
XR_001748875.2:n.1569C>A
NM_015665.6:c.1512C>A MANE Select	NP_056480.1:p.Pro504=
NM_001173466.2:c.1413C>A	NP_001166937.1:p.Pro471=