Canonical Allele Identifier: CA696874
Community Standard Title: NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)
Gene: SELENON HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25813898C>T , CM000663.2:g.25813898C>T GRCh38
NC_000001.10:g.26140389C>T , CM000663.1:g.26140389C>T GRCh37
NC_000001.9:g.26012976C>T NCBI36
NG_009930.1:g.18723C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020451.3:c.1405C>T MANE Select NP_065184.2:p.Arg469Trp
ENST00000361547.7:c.1405C>T MANE Select ENSP00000355141.2:p.Arg469Trp
NM_020451.2:c.1405C>T NP_065184.2:p.Arg469Trp
NM_206926.1:c.1303C>T NP_996809.1:p.Arg435Trp
NM_206926.2:c.1303C>T NP_996809.1:p.Arg435Trp
ENST00000354177.8:c.1303C>T ENSP00000346109.4:p.Arg435Trp
ENST00000354177.9:c.1234C>T ENSP00000346109.5:p.Arg412Trp
ENST00000361547.6:c.1405C>T ENSP00000355141.2:p.Arg469Trp
ENST00000374315.1:c.1303C>T ENSP00000363434.1:p.Arg435Trp
ENST00000494537.1:n.172C>T
ENST00000494537.2:c.1392C>T ENSP00000508308.1:p.Ser464=
ENST00000559265.1:n.255+2019C>T
ENST00000630065.2:c.-168C>T ENSP00000487549.1:n.-168C>T