Canonical Allele Identifier: CA357863
Gene: RHAG HGNC NCBI

Linked Data

ClinVar Variation Id: 225454
dbSNP Id: rs16879498
gnomAD v2: 6-49580247-C-T
gnomAD v3: 6-49612534-C-T
gnomAD v4: 6-49612534-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49612534C>T , CM000668.2:g.49612534C>T GRCh38
NC_000006.11:g.49580247C>T , CM000668.1:g.49580247C>T GRCh37
NC_000006.10:g.49688206C>T NCBI36
NG_011704.1:g.29341G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371175.10:c.808G>A MANE Select ENSP00000360217.4:p.Val270Ile
ENST00000646272.1:c.808G>A ENSP00000494337.1:p.Val270Ile
ENST00000646874.1:n.498G>A
ENST00000646939.1:c.808G>A ENSP00000494709.1:p.Val270Ile
ENST00000646963.1:c.808G>A ENSP00000495337.1:p.Val270Ile
ENST00000229810.9:c.808G>A ENSP00000229810.8:p.Val270Ile
ENST00000371175.8:c.808G>A ENSP00000360217.4:p.Val270Ile
ENST00000618248.3:c.808G>A ENSP00000482984.1:p.Val270Ile
NM_000324.2:c.808G>A NP_000315.2:p.Val270Ile
NM_000324.3:c.808G>A MANE Select NP_000315.2:p.Val270Ile