Canonical Allele Identifier: CA223578
Gene: SELENON HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.25800333G>C
GRCh37 chr1:g.26126824G>C
Revel Score:
ENST00000361547 (MANE Select) 0.304
ENST00000354177 0.304
ENST00000374315 0.304
gnomAD v2:
1:26126824 G / C
gnomAD v3:
1:25800333 G / C
gnomAD v4:
chr1-25800333-G-C
Joint Max Group AF 0.00194284 (MID)
Genomes Max Group AF 0.00057062 (AMR)
Exomes Max Group AF 0.00186421 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25800333G>C , CM000663.2:g.25800333G>C GRCh38
NC_000001.10:g.26126824G>C , CM000663.1:g.26126824G>C GRCh37
NC_000001.9:g.25999411G>C NCBI36
NG_009930.1:g.5158G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354177.9:c.103G>C ENSP00000346109.5:p.Gly35Arg
ENST00000494537.2:c.103G>C ENSP00000508308.1:p.Gly35Arg
ENST00000361547.7:c.103G>C MANE Select ENSP00000355141.2:p.Gly35Arg
ENST00000354177.8:c.103G>C ENSP00000346109.4:p.Gly35Arg
ENST00000361547.6:c.103G>C ENSP00000355141.2:p.Gly35Arg
ENST00000374315.1:c.103G>C ENSP00000363434.1:p.Gly35Arg
NM_020451.2:c.103G>C NP_065184.2:p.Gly35Arg
NM_206926.1:c.103G>C NP_996809.1:p.Gly35Arg
NM_020451.3:c.103G>C MANE Select NP_065184.2:p.Gly35Arg
NM_206926.2:c.103G>C NP_996809.1:p.Gly35Arg
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