Canonical Allele Identifier: CA3751949
Gene: RXRB HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.33196553C>G
GRCh37 chr6:g.33164330C>G
Revel Score:
ENST00000374685 0.260
ENST00000374680 (MANE Select) 0.260
ENST00000544186 0.260
ENST00000413614 0.260
gnomAD v2:
6:33164330 C / G
gnomAD v3:
6:33196553 C / G
gnomAD v4:
chr6-33196553-C-G
Joint Max Group AF 0.00003234 (AMR)
Genomes Max Group AF 0.00005285 (AMR)
Exomes Max Group AF 0.00000742 (AMR)
ClinVar RCV:
RCV004140650
ClinVar Variation:
2295526
dbSNP:
776600395
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33196553C>G , CM000668.2:g.33196553C>G GRCh38
NC_000006.11:g.33164330C>G , CM000668.1:g.33164330C>G GRCh37
NC_000006.10:g.33272308C>G NCBI36
NG_011589.1:g.916G>C
NG_023374.1:g.9103G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374680.4:c.874G>C MANE Select ENSP00000363812.3:p.Ala292Pro
ENST00000374680.3:c.874G>C ENSP00000363812.3:p.Ala292Pro
ENST00000374685.8:c.874G>C ENSP00000363817.4:p.Ala292Pro
ENST00000481441.1:n.562G>C
ENST00000483281.5:c.*386G>C ENSP00000431369.1:n.*386G>C
NM_001270401.1:c.874G>C NP_001257330.1:p.Ala292Pro
NM_001291989.1:c.304G>C NP_001278918.1:p.Ala102Pro
NM_021976.4:c.874G>C NP_068811.1:p.Ala292Pro
XM_005249278.1:c.586G>C XP_005249335.1:p.Ala196Pro
XM_005249279.1:c.586G>C XP_005249336.1:p.Ala196Pro
XM_011514796.1:c.523G>C XP_011513098.1:p.Ala175Pro
XR_926297.1:n.1070G>C
XM_005249278.3:c.586G>C XP_005249335.1:p.Ala196Pro
XM_011514796.3:c.523G>C XP_011513098.1:p.Ala175Pro
XM_017011176.1:c.505G>C XP_016866665.1:p.Ala169Pro
NM_001270401.2:c.874G>C NP_001257330.1:p.Ala292Pro
NM_021976.5:c.874G>C MANE Select NP_068811.1:p.Ala292Pro
NM_001291989.2:c.304G>C NP_001278918.1:p.Ala102Pro
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