Canonical Allele Identifier: CA354050043
Gene: ARHGAP31 HGNC NCBI

Linked Data

dbSNP Id: rs1400666120
gnomAD v2: 3-119133024-G-A
gnomAD v3: 3-119414177-G-A
gnomAD v4: 3-119414177-G-A
COSMIC: COSM256338
MyVariant Identifiers: chr3:g.119133024G>A (hg19) chr3:g.119414177G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119414177G>A , CM000665.2:g.119414177G>A GRCh38
NC_000003.11:g.119133024G>A , CM000665.1:g.119133024G>A GRCh37
NC_000003.10:g.120615714G>A NCBI36
NG_007665.2:g.124805G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2248G>A MANE Select ENSP00000264245.4:p.Ala750Thr
ENST00000264245.8:c.2248G>A ENSP00000264245.4:p.Ala750Thr
NM_020754.3:c.2248G>A NP_065805.2:p.Ala750Thr
XM_005247671.3:c.2155G>A XP_005247728.1:p.Ala719Thr
XM_006713714.2:c.2188G>A XP_006713777.1:p.Ala730Thr
XM_006713714.3:c.2188G>A XP_006713777.1:p.Ala730Thr
XM_017006955.1:c.1756G>A XP_016862444.1:p.Ala586Thr
NM_020754.4:c.2248G>A MANE Select NP_065805.2:p.Ala750Thr
Search 100 bp 5'
Search 100 bp 3'