Canonical Allele Identifier: CA6598804

Gene: AAAS

Linked Data

• dbSNP Id: rs554699080
• ExAC: 12:53701384 G / A
• gnomAD v2: 12-53701384-G-A
• gnomAD v3: 12-53307600-G-A
• gnomAD v4: 12-53307600-G-A
• MyVariant Identifiers: chr12:g.53701384G>A (hg19) ; chr12:g.53307600G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307600G>A , CM000674.2:g.53307600G>A	GRCh38
NC_000012.11:g.53701384G>A , CM000674.1:g.53701384G>A	GRCh37
NC_000012.10:g.51987651G>A	NCBI36
NG_016775.1:g.19029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1530C>T MANE Select	ENSP00000209873.4:p.Gly510=
ENST00000546562.6:n.2594C>T
ENST00000547238.6:n.2166C>T
ENST00000547520.6:n.1646C>T
ENST00000547757.2:c.*448C>T	ENSP00000448020.2:n.*448C>T
ENST00000548931.6:c.965C>T	ENSP00000457518.1:p.Ala322Val
ENST00000549450.6:n.1464C>T
ENST00000672797.1:n.2019C>T
ENST00000209873.8:c.1530C>T	ENSP00000209873.4:p.Gly510=
ENST00000394384.7:c.1431C>T	ENSP00000377908.3:p.Gly477=
ENST00000548931.5:c.965C>T	ENSP00000457518.1:p.Ala322Val
ENST00000550286.5:c.1158C>T	ENSP00000446885.1:p.Gly386=
ENST00000552876.5:n.1873C>T
NM_001173466.1:c.1431C>T	NP_001166937.1:p.Gly477=
NM_015665.5:c.1530C>T	NP_056480.1:p.Gly510=
XM_006719617.2:c.1545C>T	XP_006719680.1:p.Gly515=
XM_011538777.1:c.1587C>T	XP_011537079.1:p.Gly529=
XM_011538778.1:c.1572C>T	XP_011537080.1:p.Gly524=
XM_011538779.1:c.1488C>T	XP_011537081.1:p.Gly496=
XM_011538780.1:c.1473C>T	XP_011537082.1:p.Gly491=
XM_011538781.1:c.921C>T	XP_011537083.1:p.Gly307=
XM_011538778.2:c.1572C>T	XP_011537080.1:p.Gly524=
XM_011538780.2:c.1473C>T	XP_011537082.1:p.Gly491=
XR_001748875.2:n.1587C>T
NM_015665.6:c.1530C>T MANE Select	NP_056480.1:p.Gly510=
NM_001173466.2:c.1431C>T	NP_001166937.1:p.Gly477=