Canonical Allele Identifier: CA696842
Community Standard Title: NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe)
Gene: SELENON HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25812784C>T , CM000663.2:g.25812784C>T GRCh38
NC_000001.10:g.26139275C>T , CM000663.1:g.26139275C>T GRCh37
NC_000001.9:g.26011862C>T NCBI36
NG_009930.1:g.17609C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020451.3:c.1379C>T MANE Select NP_065184.2:p.Ser460Phe
ENST00000361547.7:c.1379C>T MANE Select ENSP00000355141.2:p.Ser460Phe
NM_020451.2:c.1379C>T NP_065184.2:p.Ser460Phe
NM_206926.1:c.1277C>T NP_996809.1:p.Ser426Phe
NM_206926.2:c.1277C>T NP_996809.1:p.Ser426Phe
ENST00000354177.8:c.1274+3C>T ENSP00000346109.4:n.1274+3C>T
ENST00000354177.9:c.1208C>T ENSP00000346109.5:p.Ser403Phe
ENST00000361547.6:c.1379C>T ENSP00000355141.2:p.Ser460Phe
ENST00000374315.1:c.1277C>T ENSP00000363434.1:p.Ser426Phe
ENST00000494537.1:n.57C>T
ENST00000494537.2:c.1277C>T ENSP00000508308.1:p.Ser426Phe
ENST00000559265.1:n.255+905C>T
ENST00000630065.2:c.-194C>T ENSP00000487549.1:n.-194C>T