Canonical Allele Identifier: CA9793620
Gene: VSX1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.25079460C>A
GRCh37 chr20:g.25060096C>A
Revel Score:
ENST00000429762 0.432
ENST00000444511 0.432
ENST00000424574 0.432
ENST00000451258 0.432
ENST00000376709 (MANE Select) 0.432
ENST00000376707 0.432
gnomAD v2:
20:25060096 C / A
gnomAD v3:
20:25079460 C / A
gnomAD v4:
chr20-25079460-C-A
Joint Max Group AF 0.01775756 (EAS)
Genomes Max Group AF 0.0120214 (EAS)
Exomes Max Group AF 0.01821432 (EAS)
ClinVar RCV:
RCV000304040
RCV000886245
ClinVar Variation:
337962
dbSNP:
74315433
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25079460C>A , CM000682.2:g.25079460C>A GRCh38
NC_000020.10:g.25060096C>A , CM000682.1:g.25060096C>A GRCh37
NC_000020.9:g.25008096C>A NCBI36
NG_008101.1:g.7672G>T
NG_008101.2:g.7672G>T
NG_008101.3:g.7722G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376709.9:c.479G>T MANE Select ENSP00000365899.3:p.Gly160Val
ENST00000376707.4:c.479G>T ENSP00000365897.3:p.Gly160Val
ENST00000376709.8:c.479G>T ENSP00000365899.3:p.Gly160Val
ENST00000409285.6:c.479G>T ENSP00000386612.2:p.Gly160Val
ENST00000409958.6:c.479G>T ENSP00000387069.2:p.Gly160Val
ENST00000429762.7:c.479G>T ENSP00000401690.3:p.Gly160Val
ENST00000444511.6:c.479G>T ENSP00000387720.2:p.Gly160Val
NM_001256271.1:c.479G>T NP_001243200.1:p.Gly160Val
NM_001256272.1:c.479G>T NP_001243201.1:p.Gly160Val
NM_014588.5:c.479G>T NP_055403.2:p.Gly160Val
NM_199425.2:c.479G>T NP_955457.1:p.Gly160Val
NR_045948.1:n.762G>T
NR_045951.1:n.762G>T
XM_017027837.1:c.479G>T XP_016883326.1:p.Gly160Val
XM_017027838.1:c.479G>T XP_016883327.1:p.Gly160Val
NM_014588.6:c.479G>T MANE Select NP_055403.2:p.Gly160Val
NR_165181.1:n.237G>T
NM_001256271.2:c.479G>T NP_001243200.1:p.Gly160Val
NM_001256272.2:c.479G>T NP_001243201.1:p.Gly160Val
NM_199425.3:c.479G>T NP_955457.1:p.Gly160Val
NR_045948.2:n.524G>T
NR_045951.2:n.524G>T
NR_165181.2:n.119G>T
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