Canonical Allele Identifier: CA223589

Gene: SELENON

Linked Data

• ClinVar Variation Id: 4496
• ClinVar RCV Id: RCV000004753 ; RCV000004754 ; RCV000082020 ; RCV000681664 ; RCV000778235 ; RCV003224794 ; RCV003993737
• dbSNP Id: rs121908188
• ExAC: 1:26136244 G / A
• gnomAD v2: 1-26136244-G-A
• gnomAD v3: 1-25809753-G-A
• gnomAD v4: 1-25809753-G-A
• MyVariant Identifiers: chr1:g.26136244G>A (hg19) ; chr1:g.25809753G>A (hg38)
• PubMed: PMID:12192640 ; PMID:15668457 ; PMID:16365872 ; PMID:17951086 ; PMID:20301436 ; PMID:23394784 ; PMID:23891399

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