Canonical Allele Identifier: CA339113903

Gene: SELENON

Linked Data

• dbSNP Id: rs945683594
• gnomAD v3: 1-25809099-C-T
• gnomAD v4: 1-25809099-C-T
• MyVariant Identifiers: chr1:g.26135590C>T (hg19) ; chr1:g.25809099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25809099C>T , CM000663.2:g.25809099C>T	GRCh38
NC_000001.10:g.26135590C>T , CM000663.1:g.26135590C>T	GRCh37
NC_000001.9:g.26008177C>T	NCBI36
NG_009930.1:g.13924C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354177.9:c.650C>T	ENSP00000346109.5:p.Ala217Val
ENST00000494537.2:c.719C>T	ENSP00000508308.1:p.Ala240Val
ENST00000361547.7:c.821C>T MANE Select	ENSP00000355141.2:p.Ala274Val
ENST00000354177.8:c.719C>T	ENSP00000346109.4:p.Ala240Val
ENST00000361547.6:c.821C>T	ENSP00000355141.2:p.Ala274Val
ENST00000374315.1:c.719C>T	ENSP00000363434.1:p.Ala240Val
NM_020451.2:c.821C>T	NP_065184.2:p.Ala274Val
NM_206926.1:c.719C>T	NP_996809.1:p.Ala240Val
NM_020451.3:c.821C>T MANE Select	NP_065184.2:p.Ala274Val
NM_206926.2:c.719C>T	NP_996809.1:p.Ala240Val