Canonical Allele Identifier: CA2554050
Gene: ARHGAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 2067301
ClinVar RCV Id: RCV002943934 RCV002966380
dbSNP Id: rs374932040
ExAC: 3:119133261 G / A
gnomAD v2: 3-119133261-G-A
gnomAD v3: 3-119414414-G-A
gnomAD v4: 3-119414414-G-A
MyVariant Identifiers: chr3:g.119133261G>A (hg19) chr3:g.119414414G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119414414G>A , CM000665.2:g.119414414G>A GRCh38
NC_000003.11:g.119133261G>A , CM000665.1:g.119133261G>A GRCh37
NC_000003.10:g.120615951G>A NCBI36
NG_007665.2:g.125042G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2485G>A MANE Select ENSP00000264245.4:p.Glu829Lys
ENST00000264245.8:c.2485G>A ENSP00000264245.4:p.Glu829Lys
NM_020754.3:c.2485G>A NP_065805.2:p.Glu829Lys
XM_005247671.3:c.2392G>A XP_005247728.1:p.Glu798Lys
XM_006713714.2:c.2425G>A XP_006713777.1:p.Glu809Lys
XM_006713714.3:c.2425G>A XP_006713777.1:p.Glu809Lys
XM_017006955.1:c.1993G>A XP_016862444.1:p.Glu665Lys
NM_020754.4:c.2485G>A MANE Select NP_065805.2:p.Glu829Lys
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