Canonical Allele Identifier: CA207149

Gene: SELENON

Linked Data

• ClinVar Variation Id: 212148
• ClinVar RCV Id: RCV000193575 ; RCV000543024 ; RCV000725931 ; RCV001097302 ; RCV002492881
• dbSNP Id: rs201692549
• ExAC: 1:26131644 G / A
• gnomAD v2: 1-26131644-G-A
• gnomAD v3: 1-25805153-G-A
• gnomAD v4: 1-25805153-G-A
• MyVariant Identifiers: chr1:g.26131644G>A (hg19) ; chr1:g.25805153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25805153G>A , CM000663.2:g.25805153G>A	GRCh38
NC_000001.10:g.26131644G>A , CM000663.1:g.26131644G>A	GRCh37
NC_000001.9:g.26004231G>A	NCBI36
NG_009930.1:g.9978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354177.9:c.313G>A	ENSP00000346109.5:p.Ala105Thr
ENST00000494537.2:c.313G>A	ENSP00000508308.1:p.Ala105Thr
ENST00000361547.7:c.415G>A MANE Select	ENSP00000355141.2:p.Ala139Thr
ENST00000354177.8:c.313G>A	ENSP00000346109.4:p.Ala105Thr
ENST00000361547.6:c.415G>A	ENSP00000355141.2:p.Ala139Thr
ENST00000374315.1:c.313G>A	ENSP00000363434.1:p.Ala105Thr
NM_020451.2:c.415G>A	NP_065184.2:p.Ala139Thr
NM_206926.1:c.313G>A	NP_996809.1:p.Ala105Thr
NM_020451.3:c.415G>A MANE Select	NP_065184.2:p.Ala139Thr
NM_206926.2:c.313G>A	NP_996809.1:p.Ala105Thr