Canonical Allele Identifier: CA39171557
Gene: RHOU HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.228744368G>A
GRCh37 chr1:g.228880115G>A
gnomAD v2:
1:228880115 G / A
gnomAD v3:
1:228744368 G / A
gnomAD v4:
chr1-228744368-G-A
Joint Max Group AF 0.17307163 (MID)
Genomes Max Group AF 0.11393385 (AFR)
Exomes Max Group AF 0.02538251 (NFE)
dbSNP:
6426514
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228744368G>A , CM000663.2:g.228744368G>A GRCh38
NC_000001.10:g.228880115G>A , CM000663.1:g.228880115G>A GRCh37
NC_000001.9:g.226946738G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366691.4:c.*628G>A MANE Select ENSP00000355652.3:n.*628G>A
ENST00000366691.3:c.*628G>A ENSP00000355652.3:n.*628G>A
NM_021205.5:c.*628G>A NP_067028.1:n.*628G>A
NR_037962.1:n.1529G>A
NM_021205.6:c.*628G>A MANE Select NP_067028.1:n.*628G>A
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