Canonical Allele Identifier: CA2554014
Gene: ARHGAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 342656
ClinVar RCV Id: RCV000595430 RCV000926668 RCV002259918 RCV004021872
dbSNP Id: rs186621177
ExAC: 3:119133135 C / G
gnomAD v2: 3-119133135-C-G
gnomAD v3: 3-119414288-C-G
gnomAD v4: 3-119414288-C-G
MyVariant Identifiers: chr3:g.119133135C>G (hg19) chr3:g.119414288C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119414288C>G , CM000665.2:g.119414288C>G GRCh38
NC_000003.11:g.119133135C>G , CM000665.1:g.119133135C>G GRCh37
NC_000003.10:g.120615825C>G NCBI36
NG_007665.2:g.124916C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2359C>G MANE Select ENSP00000264245.4:p.Pro787Ala
ENST00000264245.8:c.2359C>G ENSP00000264245.4:p.Pro787Ala
NM_020754.3:c.2359C>G NP_065805.2:p.Pro787Ala
XM_005247671.3:c.2266C>G XP_005247728.1:p.Pro756Ala
XM_006713714.2:c.2299C>G XP_006713777.1:p.Pro767Ala
XM_006713714.3:c.2299C>G XP_006713777.1:p.Pro767Ala
XM_017006955.1:c.1867C>G XP_016862444.1:p.Pro623Ala
NM_020754.4:c.2359C>G MANE Select NP_065805.2:p.Pro787Ala
Search 100 bp 5'
Search 100 bp 3'