Canonical Allele Identifier: CA16602957
Community Standard Title: NM_002957.6(RXRA):c.1280C>T (p.Ser427Phe)
Gene: RXRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134436505C>T , CM000671.2:g.134436505C>T GRCh38
NC_000009.11:g.137328351C>T , CM000671.1:g.137328351C>T GRCh37
NC_000009.10:g.136468172C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002957.6:c.1280C>T MANE Select NP_002948.1:p.Ser427Phe
ENST00000481739.2:c.1280C>T MANE Select ENSP00000419692.1:p.Ser427Phe
NM_001291920.1:c.1199C>T NP_001278849.1:p.Ser400Phe
NM_001291920.2:c.1199C>T NP_001278849.1:p.Ser400Phe
NM_001291921.1:c.989C>T NP_001278850.1:p.Ser330Phe
NM_001291921.2:c.989C>T NP_001278850.1:p.Ser330Phe
NM_002957.5:c.1280C>T NP_002948.1:p.Ser427Phe
ENST00000356384.4:n.1690C>T
ENST00000481739.1:c.1280C>T ENSP00000419692.1:p.Ser427Phe
ENST00000672570.1:c.1199C>T ENSP00000500402.1:p.Ser400Phe