Canonical Allele Identifier: CA2554010
Gene: ARHGAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 1500701
ClinVar RCV Id: RCV002042632
dbSNP Id: rs769051277
ExAC: 3:119133111 C / T
gnomAD v2: 3-119133111-C-T
gnomAD v3: 3-119414264-C-T
gnomAD v4: 3-119414264-C-T
MyVariant Identifiers: chr3:g.119133111C>T (hg19) chr3:g.119414264C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119414264C>T , CM000665.2:g.119414264C>T GRCh38
NC_000003.11:g.119133111C>T , CM000665.1:g.119133111C>T GRCh37
NC_000003.10:g.120615801C>T NCBI36
NG_007665.2:g.124892C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2335C>T MANE Select ENSP00000264245.4:p.Pro779Ser
ENST00000264245.8:c.2335C>T ENSP00000264245.4:p.Pro779Ser
NM_020754.3:c.2335C>T NP_065805.2:p.Pro779Ser
XM_005247671.3:c.2242C>T XP_005247728.1:p.Pro748Ser
XM_006713714.2:c.2275C>T XP_006713777.1:p.Pro759Ser
XM_006713714.3:c.2275C>T XP_006713777.1:p.Pro759Ser
XM_017006955.1:c.1843C>T XP_016862444.1:p.Pro615Ser
NM_020754.4:c.2335C>T MANE Select NP_065805.2:p.Pro779Ser
Search 100 bp 5'
Search 100 bp 3'