Canonical Allele Identifier: CA696975
Gene: SELENON HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.25815660C>A
GRCh37 chr1:g.26142151C>A
Revel Score:
ENST00000361547 (MANE Select) 0.508
ENST00000354177 0.508
ENST00000374315 0.508
gnomAD v2:
1:26142151 C / A
gnomAD v3:
1:25815660 C / A
gnomAD v4:
chr1-25815660-C-A
Joint Max Group AF 0.00372674 (AFR)
Genomes Max Group AF 0.00349737 (AFR)
Exomes Max Group AF 0.00367248 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25815660C>A , CM000663.2:g.25815660C>A GRCh38
NC_000001.10:g.26142151C>A , CM000663.1:g.26142151C>A GRCh37
NC_000001.9:g.26014738C>A NCBI36
NG_009930.1:g.20485C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000354177.9:c.1544C>A ENSP00000346109.5:p.Thr515Asn
ENST00000494537.2:c.1702C>A ENSP00000508308.1:n.1702C>A
ENST00000361547.7:c.1715C>A MANE Select ENSP00000355141.2:p.Thr572Asn
ENST00000354177.8:c.1613C>A ENSP00000346109.4:p.Thr538Asn
ENST00000361547.6:c.1715C>A ENSP00000355141.2:p.Thr572Asn
ENST00000374315.1:c.1613C>A ENSP00000363434.1:p.Thr538Asn
ENST00000494537.1:n.482C>A
ENST00000527604.1:c.123+1482C>A ENSP00000457066.1:n.123+1482C>A
ENST00000559265.1:n.255+3781C>A
ENST00000630065.2:c.143C>A ENSP00000487549.1:p.Thr48Asn
NM_020451.2:c.1715C>A NP_065184.2:p.Thr572Asn
NM_206926.1:c.1613C>A NP_996809.1:p.Thr538Asn
NM_020451.3:c.1715C>A MANE Select NP_065184.2:p.Thr572Asn
NM_206926.2:c.1613C>A NP_996809.1:p.Thr538Asn
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