Canonical Allele Identifier: CA3847964
Gene: RHAG HGNC NCBI

Linked Data

ClinVar Variation Id: 1048967
ClinVar RCV Id: RCV001354429
dbSNP Id: rs149343590
ExAC: 6:49587024 G / A
gnomAD v2: 6-49587024-G-A
gnomAD v3: 6-49619311-G-A
gnomAD v4: 6-49619311-G-A
MyVariant Identifiers: chr6:g.49587024G>A (hg19) chr6:g.49619311G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49619311G>A , CM000668.2:g.49619311G>A GRCh38
NC_000006.11:g.49587024G>A , CM000668.1:g.49587024G>A GRCh37
NC_000006.10:g.49694983G>A NCBI36
NG_011704.1:g.22564C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371175.10:c.209C>T MANE Select ENSP00000360217.4:p.Thr70Ile
ENST00000642530.1:n.484C>T
ENST00000646272.1:c.209C>T ENSP00000494337.1:p.Thr70Ile
ENST00000646939.1:c.209C>T ENSP00000494709.1:p.Thr70Ile
ENST00000646963.1:c.209C>T ENSP00000495337.1:p.Thr70Ile
ENST00000229810.9:c.209C>T ENSP00000229810.8:p.Thr70Ile
ENST00000371175.8:c.209C>T ENSP00000360217.4:p.Thr70Ile
ENST00000618248.3:c.209C>T ENSP00000482984.1:p.Thr70Ile
NM_000324.2:c.209C>T NP_000315.2:p.Thr70Ile
XM_011514788.1:c.209C>T XP_011513090.1:p.Thr70Ile
NM_000324.3:c.209C>T MANE Select NP_000315.2:p.Thr70Ile
Search 100 bp 5'
Search 100 bp 3'