Canonical Allele Identifier: CA375438441
Community Standard Title: NM_002957.6(RXRA):c.671G>A (p.Ser224Asn)
Gene: RXRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134417218G>A , CM000671.2:g.134417218G>A GRCh38
NC_000009.11:g.137309064G>A , CM000671.1:g.137309064G>A GRCh37
NC_000009.10:g.136448885G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002957.6:c.671G>A MANE Select NP_002948.1:p.Ser224Asn
ENST00000481739.2:c.671G>A MANE Select ENSP00000419692.1:p.Ser224Asn
NM_001291920.1:c.590G>A NP_001278849.1:p.Ser197Asn
NM_001291920.2:c.590G>A NP_001278849.1:p.Ser197Asn
NM_001291921.1:c.380G>A NP_001278850.1:p.Ser127Asn
NM_001291921.2:c.380G>A NP_001278850.1:p.Ser127Asn
NM_002957.5:c.671G>A NP_002948.1:p.Ser224Asn
ENST00000356384.4:n.1081G>A
ENST00000481739.1:c.671G>A ENSP00000419692.1:p.Ser224Asn
ENST00000672570.1:c.590G>A ENSP00000500402.1:p.Ser197Asn