Canonical Allele Identifier: CA385035358

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701411G>A (hg19) ; chr12:g.53307627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307627G>A , CM000674.2:g.53307627G>A	GRCh38
NC_000012.11:g.53701411G>A , CM000674.1:g.53701411G>A	GRCh37
NC_000012.10:g.51987678G>A	NCBI36
NG_016775.1:g.19002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1503C>T MANE Select	ENSP00000209873.4:p.Ala501=
ENST00000546562.6:n.2567C>T
ENST00000547238.6:n.2139C>T
ENST00000547520.6:n.1619C>T
ENST00000547757.2:c.*421C>T	ENSP00000448020.2:n.*421C>T
ENST00000548931.6:c.938C>T	ENSP00000457518.1:p.Pro313Leu
ENST00000549450.6:n.1437C>T
ENST00000672797.1:n.1992C>T
ENST00000209873.8:c.1503C>T	ENSP00000209873.4:p.Ala501=
ENST00000394384.7:c.1404C>T	ENSP00000377908.3:p.Ala468=
ENST00000548931.5:c.938C>T	ENSP00000457518.1:p.Pro313Leu
ENST00000550286.5:c.1131C>T	ENSP00000446885.1:p.Ala377=
ENST00000552876.5:n.1846C>T
NM_001173466.1:c.1404C>T	NP_001166937.1:p.Ala468=
NM_015665.5:c.1503C>T	NP_056480.1:p.Ala501=
XM_006719617.2:c.1518C>T	XP_006719680.1:p.Ala506=
XM_011538777.1:c.1560C>T	XP_011537079.1:p.Ala520=
XM_011538778.1:c.1545C>T	XP_011537080.1:p.Ala515=
XM_011538779.1:c.1461C>T	XP_011537081.1:p.Ala487=
XM_011538780.1:c.1446C>T	XP_011537082.1:p.Ala482=
XM_011538781.1:c.894C>T	XP_011537083.1:p.Ala298=
XM_011538778.2:c.1545C>T	XP_011537080.1:p.Ala515=
XM_011538780.2:c.1446C>T	XP_011537082.1:p.Ala482=
XR_001748875.2:n.1560C>T
NM_015665.6:c.1503C>T MANE Select	NP_056480.1:p.Ala501=
NM_001173466.2:c.1404C>T	NP_001166937.1:p.Ala468=