Canonical Allele Identifier: CA3847785
Gene: RHAG HGNC NCBI

Linked Data

dbSNP Id: rs764395638
gnomAD v2: 6-49580121-T-C
gnomAD v4: 6-49612408-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49612408T>C , CM000668.2:g.49612408T>C GRCh38
NC_000006.11:g.49580121T>C , CM000668.1:g.49580121T>C GRCh37
NC_000006.10:g.49688080T>C NCBI36
NG_011704.1:g.29467A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371175.10:c.934A>G MANE Select ENSP00000360217.4:p.Lys312Glu
ENST00000646272.1:c.934A>G ENSP00000494337.1:p.Lys312Glu
ENST00000646939.1:c.934A>G ENSP00000494709.1:p.Lys312Glu
ENST00000646963.1:c.934A>G ENSP00000495337.1:p.Lys312Glu
ENST00000229810.9:c.934A>G ENSP00000229810.8:p.Lys312Glu
ENST00000371175.8:c.934A>G ENSP00000360217.4:p.Lys312Glu
ENST00000618248.3:c.934A>G ENSP00000482984.1:p.Lys312Glu
NM_000324.2:c.934A>G NP_000315.2:p.Lys312Glu
NM_000324.3:c.934A>G MANE Select NP_000315.2:p.Lys312Glu