Canonical Allele Identifier: CA223586
Gene: SELENON HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25815599G>A , CM000663.2:g.25815599G>A GRCh38
NC_000001.10:g.26142090G>A , CM000663.1:g.26142090G>A GRCh37
NC_000001.9:g.26014677G>A NCBI36
NG_009930.1:g.20424G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354177.9:c.1483G>A ENSP00000346109.5:p.Glu495Lys
ENST00000494537.2:c.1641G>A ENSP00000508308.1:n.1641G>A
ENST00000361547.7:c.1654G>A MANE Select ENSP00000355141.2:p.Glu552Lys
ENST00000354177.8:c.1552G>A ENSP00000346109.4:p.Glu518Lys
ENST00000361547.6:c.1654G>A ENSP00000355141.2:p.Glu552Lys
ENST00000374315.1:c.1552G>A ENSP00000363434.1:p.Glu518Lys
ENST00000494537.1:n.421G>A
ENST00000527604.1:c.123+1421G>A ENSP00000457066.1:n.123+1421G>A
ENST00000559265.1:n.255+3720G>A
ENST00000630065.2:c.82G>A ENSP00000487549.1:p.Glu28Lys
NM_020451.2:c.1654G>A NP_065184.2:p.Glu552Lys
NM_206926.1:c.1552G>A NP_996809.1:p.Glu518Lys
NM_020451.3:c.1654G>A MANE Select NP_065184.2:p.Glu552Lys
NM_206926.2:c.1552G>A NP_996809.1:p.Glu518Lys