Canonical Allele Identifier: CA343472854

Gene: RXRG

Linked Data

• dbSNP Id: rs1332511317
• gnomAD v2: 1-165389136-A-G
• gnomAD v3: 1-165419899-A-G
• gnomAD v4: 1-165419899-A-G
• MyVariant Identifiers: chr1:g.165389136A>G (hg19) ; chr1:g.165419899A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165419899A>G , CM000663.2:g.165419899A>G	GRCh38
NC_000001.10:g.165389136A>G , CM000663.1:g.165389136A>G	GRCh37
NC_000001.9:g.163655760A>G	NCBI36
NG_029517.1:g.30457T>C
NG_029517.2:g.30457T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000359842.10:c.413T>C MANE Select	ENSP00000352900.5:p.Ile138Thr
ENST00000359842.9:c.413T>C	ENSP00000352900.5:p.Ile138Thr
ENST00000470566.1:n.338T>C
ENST00000619224.1:c.44T>C	ENSP00000482458.1:p.Ile15Thr
NM_001256570.1:c.44T>C	NP_001243499.1:p.Ile15Thr
NM_001256571.1:c.44T>C	NP_001243500.1:p.Ile15Thr
NM_006917.4:c.413T>C	NP_008848.1:p.Ile138Thr
NM_006917.5:c.413T>C MANE Select	NP_008848.1:p.Ile138Thr
NM_001256571.2:c.44T>C	NP_001243500.1:p.Ile15Thr
NM_001256570.2:c.44T>C	NP_001243499.1:p.Ile15Thr