Canonical Allele Identifier: CA1220021
Gene: RXRG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.165408315G>A
GRCh37 chr1:g.165377552G>A
gnomAD v2:
1:165377552 G / A
gnomAD v3:
1:165408315 G / A
gnomAD v4:
chr1-165408315-G-A
Joint Max Group AF 0.66946123 (NFE)
Genomes Max Group AF 0.6672099 (NFE)
Exomes Max Group AF 0.6693205 (NFE)
dbSNP:
2134095
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.165408315G>A , CM000663.2:g.165408315G>A GRCh38
NC_000001.10:g.165377552G>A , CM000663.1:g.165377552G>A GRCh37
NC_000001.9:g.163644176G>A NCBI36
NG_029517.1:g.42041C>T
NG_029517.2:g.42041C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359842.10:c.1050C>T MANE Select ENSP00000352900.5:p.Val350=
ENST00000359842.9:c.1050C>T ENSP00000352900.5:p.Val350=
ENST00000619224.1:c.681C>T ENSP00000482458.1:p.Val227=
NM_001256570.1:c.681C>T NP_001243499.1:p.Val227=
NM_001256571.1:c.681C>T NP_001243500.1:p.Val227=
NM_006917.4:c.1050C>T NP_008848.1:p.Val350=
NM_006917.5:c.1050C>T MANE Select NP_008848.1:p.Val350=
NM_001256571.2:c.681C>T NP_001243500.1:p.Val227=
NM_001256570.2:c.681C>T NP_001243499.1:p.Val227=
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