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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2553857
Gene: ARHGAP31
HGNC
NCBI
Linked Data
ClinVar Variation Id:
710931
ClinVar RCV Id:
RCV000882609
dbSNP Id:
rs747349341
ExAC:
3:119121228 A / G
gnomAD v2:
3-119121228-A-G
gnomAD v4:
3-119402381-A-G
MyVariant Identifiers:
chr3:g.119121228A>G (hg19)
chr3:g.119402381A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.119402381A>G , CM000665.2:g.119402381A>G
GRCh38
NC_000003.11:g.119121228A>G , CM000665.1:g.119121228A>G
GRCh37
NC_000003.10:g.120603918A>G
NCBI36
NG_007665.2:g.113009A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264245.9:c.1629A>G
MANE Select
ENSP00000264245.4:p.Gly543=
ENST00000264245.8:c.1629A>G
ENSP00000264245.4:p.Gly543=
NM_020754.3:c.1629A>G
NP_065805.2:p.Gly543=
XM_005247671.3:c.1536A>G
XP_005247728.1:p.Gly512=
XM_006713714.2:c.1569A>G
XP_006713777.1:p.Gly523=
XM_006713714.3:c.1569A>G
XP_006713777.1:p.Gly523=
XM_017006955.1:c.1137A>G
XP_016862444.1:p.Gly379=
NM_020754.4:c.1629A>G
MANE Select
NP_065805.2:p.Gly543=
Search 100 bp 5'
Search 100 bp 3'