Canonical Allele Identifier: CA375452164

Gene: RXRA

Linked Data

• dbSNP Id: rs1218698250
• gnomAD v2: 9-137300044-C-T
• gnomAD v4: 9-134408198-C-T
• MyVariant Identifiers: chr9:g.137300044C>T (hg19) ; chr9:g.134408198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134408198C>T , CM000671.2:g.134408198C>T	GRCh38
NC_000009.11:g.137300044C>T , CM000671.1:g.137300044C>T	GRCh37
NC_000009.10:g.136439865C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481739.2:c.329C>T MANE Select	ENSP00000419692.1:p.Pro110Leu
ENST00000672570.1:c.248C>T	ENSP00000500402.1:p.Pro83Leu
ENST00000356384.4:n.739C>T
ENST00000481739.1:c.329C>T	ENSP00000419692.1:p.Pro110Leu
NM_001291920.1:c.248C>T	NP_001278849.1:p.Pro83Leu
NM_001291921.1:c.38C>T	NP_001278850.1:p.Pro13Leu
NM_002957.5:c.329C>T	NP_002948.1:p.Pro110Leu
NM_002957.6:c.329C>T MANE Select	NP_002948.1:p.Pro110Leu
NM_001291921.2:c.38C>T	NP_001278850.1:p.Pro13Leu
NM_001291920.2:c.248C>T	NP_001278849.1:p.Pro83Leu