Canonical Allele Identifier: CA9793586

Gene: VSX1

Linked Data

• ClinVar Variation Id: 896937
• ClinVar RCV Id: RCV001139918
• dbSNP Id: rs767762959
• ExAC: 20:25059535 G / A
• gnomAD v2: 20-25059535-G-A
• gnomAD v3: 20-25078899-G-A
• gnomAD v4: 20-25078899-G-A
• MyVariant Identifiers: chr20:g.25059535G>A (hg19) ; chr20:g.25078899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25078899G>A , CM000682.2:g.25078899G>A	GRCh38
NC_000020.10:g.25059535G>A , CM000682.1:g.25059535G>A	GRCh37
NC_000020.9:g.25007535G>A	NCBI36
NG_008101.1:g.8233C>T
NG_008101.2:g.8233C>T
NG_008101.3:g.8283C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376709.9:c.557C>T MANE Select	ENSP00000365899.3:p.Ala186Val
ENST00000376707.4:c.557C>T	ENSP00000365897.3:p.Ala186Val
ENST00000376709.8:c.557C>T	ENSP00000365899.3:p.Ala186Val
ENST00000409285.6:c.557C>T	ENSP00000386612.2:p.Ala186Val
ENST00000409958.6:c.557C>T	ENSP00000387069.2:p.Ala186Val
ENST00000429762.7:c.557C>T	ENSP00000401690.3:p.Ala186Val
ENST00000444511.6:c.557C>T	ENSP00000387720.2:p.Ala186Val
NM_001256271.1:c.557C>T	NP_001243200.1:p.Ala186Val
NM_001256272.1:c.557C>T	NP_001243201.1:p.Ala186Val
NM_014588.5:c.557C>T	NP_055403.2:p.Ala186Val
NM_199425.2:c.557C>T	NP_955457.1:p.Ala186Val
NR_045948.1:n.840C>T
NR_045951.1:n.840C>T
XM_017027837.1:c.557C>T	XP_016883326.1:p.Ala186Val
XM_017027838.1:c.557C>T	XP_016883327.1:p.Ala186Val
NM_014588.6:c.557C>T MANE Select	NP_055403.2:p.Ala186Val
NR_165181.1:n.315C>T
NM_001256271.2:c.557C>T	NP_001243200.1:p.Ala186Val
NM_001256272.2:c.557C>T	NP_001243201.1:p.Ala186Val
NM_199425.3:c.557C>T	NP_955457.1:p.Ala186Val
NR_045948.2:n.602C>T
NR_045951.2:n.602C>T
NR_165181.2:n.197C>T