Canonical Allele Identifier: CA223589
Gene: SELENON HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.25809753G>A
GRCh37 chr1:g.26136244G>A
Revel Score:
ENST00000361547 (MANE Select) 0.949
ENST00000354177 0.949
ENST00000374315 0.949
gnomAD v2:
1:26136244 G / A
gnomAD v3:
1:25809753 G / A
gnomAD v4:
chr1-25809753-G-A
Joint Max Group AF 0.00063114 (NFE)
Genomes Max Group AF 0.00039213 (NFE)
Exomes Max Group AF 0.00063829 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25809753G>A , CM000663.2:g.25809753G>A GRCh38
NC_000001.10:g.26136244G>A , CM000663.1:g.26136244G>A GRCh37
NC_000001.9:g.26008831G>A NCBI36
NG_009930.1:g.14578G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354177.9:c.772G>A ENSP00000346109.5:p.Gly258Ser
ENST00000494537.2:c.841G>A ENSP00000508308.1:p.Gly281Ser
ENST00000361547.7:c.943G>A MANE Select ENSP00000355141.2:p.Gly315Ser
ENST00000354177.8:c.841G>A ENSP00000346109.4:p.Gly281Ser
ENST00000361547.6:c.943G>A ENSP00000355141.2:p.Gly315Ser
ENST00000374315.1:c.841G>A ENSP00000363434.1:p.Gly281Ser
NM_020451.2:c.943G>A NP_065184.2:p.Gly315Ser
NM_206926.1:c.841G>A NP_996809.1:p.Gly281Ser
NM_020451.3:c.943G>A MANE Select NP_065184.2:p.Gly315Ser
NM_206926.2:c.841G>A NP_996809.1:p.Gly281Ser
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