Canonical Allele Identifier: CA6598796

Gene: AAAS

Linked Data

• ClinVar Variation Id: 309718
• ClinVar RCV Id: RCV000343022 ; RCV000886859
• dbSNP Id: rs34451260
• ExAC: 12:53701317 C / T
• gnomAD v2: 12-53701317-C-T
• gnomAD v3: 12-53307533-C-T
• gnomAD v4: 12-53307533-C-T
• MyVariant Identifiers: chr12:g.53701317C>T (hg19) ; chr12:g.53307533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307533C>T , CM000674.2:g.53307533C>T	GRCh38
NC_000012.11:g.53701317C>T , CM000674.1:g.53701317C>T	GRCh37
NC_000012.10:g.51987584C>T	NCBI36
NG_016775.1:g.19096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1597G>A MANE Select	ENSP00000209873.4:p.Gly533Arg
ENST00000546562.6:n.2661G>A
ENST00000547238.6:n.2233G>A
ENST00000547757.2:c.*515G>A	ENSP00000448020.2:n.*515G>A
ENST00000548931.6:c.1032G>A	ENSP00000457518.1:p.Gln344=
ENST00000549450.6:n.1531G>A
ENST00000672797.1:n.2086G>A
ENST00000209873.8:c.1597G>A	ENSP00000209873.4:p.Gly533Arg
ENST00000394384.7:c.1498G>A	ENSP00000377908.3:p.Gly500Arg
ENST00000548931.5:c.1032G>A	ENSP00000457518.1:p.Gln344=
ENST00000550286.5:c.1225G>A	ENSP00000446885.1:p.Gly409Arg
ENST00000552876.5:n.1940G>A
NM_001173466.1:c.1498G>A	NP_001166937.1:p.Gly500Arg
NM_015665.5:c.1597G>A	NP_056480.1:p.Gly533Arg
XM_006719617.2:c.1612G>A	XP_006719680.1:p.Gly538Arg
XM_011538777.1:c.1654G>A	XP_011537079.1:p.Gly552Arg
XM_011538778.1:c.1639G>A	XP_011537080.1:p.Gly547Arg
XM_011538779.1:c.1555G>A	XP_011537081.1:p.Gly519Arg
XM_011538780.1:c.1540G>A	XP_011537082.1:p.Gly514Arg
XM_011538781.1:c.988G>A	XP_011537083.1:p.Gly330Arg
XM_011538778.2:c.1639G>A	XP_011537080.1:p.Gly547Arg
XM_011538780.2:c.1540G>A	XP_011537082.1:p.Gly514Arg
XR_001748875.2:n.1654G>A
NM_015665.6:c.1597G>A MANE Select	NP_056480.1:p.Gly533Arg
NM_001173466.2:c.1498G>A	NP_001166937.1:p.Gly500Arg