Canonical Allele Identifier: CA6598995

Gene: AAAS

Linked Data

• ClinVar Variation Id: 2589379
• ClinVar RCV Id: RCV003340246
• dbSNP Id: rs201103082
• ExAC: 12:53702514 C / T
• gnomAD v2: 12-53702514-C-T
• gnomAD v3: 12-53308730-C-T
• gnomAD v4: 12-53308730-C-T
• MyVariant Identifiers: chr12:g.53702514C>T (hg19) ; chr12:g.53308730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308730C>T , CM000674.2:g.53308730C>T	GRCh38
NC_000012.11:g.53702514C>T , CM000674.1:g.53702514C>T	GRCh37
NC_000012.10:g.51988781C>T	NCBI36
NG_016775.1:g.17899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1082G>A MANE Select	ENSP00000209873.4:p.Arg361His
ENST00000546562.6:n.2146G>A
ENST00000547238.6:n.1718G>A
ENST00000547520.6:n.1076G>A
ENST00000547757.2:c.131G>A	ENSP00000448020.2:p.Arg44His
ENST00000548880.2:n.1532G>A
ENST00000548931.6:c.602G>A	ENSP00000457518.1:p.Arg201His
ENST00000549450.6:n.1016G>A
ENST00000552161.6:n.2038G>A
ENST00000672797.1:n.1571G>A
ENST00000672900.1:n.2024G>A
ENST00000209873.8:c.1082G>A	ENSP00000209873.4:p.Arg361His
ENST00000394384.7:c.983G>A	ENSP00000377908.3:p.Arg328His
ENST00000548931.5:c.602G>A	ENSP00000457518.1:p.Arg201His
ENST00000550033.5:n.337G>A
ENST00000550286.5:c.710G>A	ENSP00000446885.1:p.Arg237His
ENST00000552876.5:n.1425G>A
NM_001173466.1:c.983G>A	NP_001166937.1:p.Arg328His
NM_015665.5:c.1082G>A	NP_056480.1:p.Arg361His
XM_006719617.2:c.1097G>A	XP_006719680.1:p.Arg366His
XM_011538777.1:c.1097G>A	XP_011537079.1:p.Arg366His
XM_011538778.1:c.1082G>A	XP_011537080.1:p.Arg361His
XM_011538779.1:c.998G>A	XP_011537081.1:p.Arg333His
XM_011538780.1:c.983G>A	XP_011537082.1:p.Arg328His
XM_011538781.1:c.431G>A	XP_011537083.1:p.Arg144His
XM_011538778.2:c.1082G>A	XP_011537080.1:p.Arg361His
XM_011538780.2:c.983G>A	XP_011537082.1:p.Arg328His
XR_001748875.2:n.1139G>A
NM_015665.6:c.1082G>A MANE Select	NP_056480.1:p.Arg361His
NM_001173466.2:c.983G>A	NP_001166937.1:p.Arg328His