Canonical Allele Identifier: CA2554026
Gene: ARHGAP31 HGNC NCBI

Linked Data

dbSNP Id: rs749806737
ExAC: 3:119133169 T / C
gnomAD v2: 3-119133169-T-C
gnomAD v4: 3-119414322-T-C
MyVariant Identifiers: chr3:g.119133169T>C (hg19) chr3:g.119414322T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119414322T>C , CM000665.2:g.119414322T>C GRCh38
NC_000003.11:g.119133169T>C , CM000665.1:g.119133169T>C GRCh37
NC_000003.10:g.120615859T>C NCBI36
NG_007665.2:g.124950T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2393T>C MANE Select ENSP00000264245.4:p.Leu798Pro
ENST00000264245.8:c.2393T>C ENSP00000264245.4:p.Leu798Pro
NM_020754.3:c.2393T>C NP_065805.2:p.Leu798Pro
XM_005247671.3:c.2300T>C XP_005247728.1:p.Leu767Pro
XM_006713714.2:c.2333T>C XP_006713777.1:p.Leu778Pro
XM_006713714.3:c.2333T>C XP_006713777.1:p.Leu778Pro
XM_017006955.1:c.1901T>C XP_016862444.1:p.Leu634Pro
NM_020754.4:c.2393T>C MANE Select NP_065805.2:p.Leu798Pro
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