Canonical Allele Identifier: CA6598813

Gene: AAAS

Linked Data

• ClinVar Variation Id: 309723
• ClinVar RCV Id: RCV000306536
• dbSNP Id: rs886049649
• ExAC: 12:53701416 G / A
• gnomAD v2: 12-53701416-G-A
• gnomAD v3: 12-53307632-G-A
• gnomAD v4: 12-53307632-G-A
• MyVariant Identifiers: chr12:g.53701416G>A (hg19) ; chr12:g.53701416_53701417delinsAC (hg19) ; chr12:g.53307632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307632G>A , CM000674.2:g.53307632G>A	GRCh38
NC_000012.11:g.53701416G>A , CM000674.1:g.53701416G>A	GRCh37
NC_000012.10:g.51987683G>A	NCBI36
NG_016775.1:g.18997C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1498C>T MANE Select	ENSP00000209873.4:p.Arg500Trp
ENST00000546562.6:n.2562C>T
ENST00000547238.6:n.2134C>T
ENST00000547520.6:n.1614C>T
ENST00000547757.2:c.*416C>T	ENSP00000448020.2:n.*416C>T
ENST00000548931.6:c.933C>T	ENSP00000457518.1:p.Gly311=
ENST00000549450.6:n.1432C>T
ENST00000672797.1:n.1987C>T
ENST00000209873.8:c.1498C>T	ENSP00000209873.4:p.Arg500Trp
ENST00000394384.7:c.1399C>T	ENSP00000377908.3:p.Arg467Trp
ENST00000548931.5:c.933C>T	ENSP00000457518.1:p.Gly311=
ENST00000550286.5:c.1126C>T	ENSP00000446885.1:p.Arg376Trp
ENST00000552876.5:n.1841C>T
NM_001173466.1:c.1399C>T	NP_001166937.1:p.Arg467Trp
NM_015665.5:c.1498C>T	NP_056480.1:p.Arg500Trp
XM_006719617.2:c.1513C>T	XP_006719680.1:p.Arg505Trp
XM_011538777.1:c.1555C>T	XP_011537079.1:p.Arg519Trp
XM_011538778.1:c.1540C>T	XP_011537080.1:p.Arg514Trp
XM_011538779.1:c.1456C>T	XP_011537081.1:p.Arg486Trp
XM_011538780.1:c.1441C>T	XP_011537082.1:p.Arg481Trp
XM_011538781.1:c.889C>T	XP_011537083.1:p.Arg297Trp
XM_011538778.2:c.1540C>T	XP_011537080.1:p.Arg514Trp
XM_011538780.2:c.1441C>T	XP_011537082.1:p.Arg481Trp
XR_001748875.2:n.1555C>T
NM_015665.6:c.1498C>T MANE Select	NP_056480.1:p.Arg500Trp
NM_001173466.2:c.1399C>T	NP_001166937.1:p.Arg467Trp