Canonical Allele Identifier: CA9793569

Gene: VSX1

Linked Data

• dbSNP Id: rs483352777
• ExAC: 20:25059473 G / A
• gnomAD v2: 20-25059473-G-A
• gnomAD v3: 20-25078837-G-A
• gnomAD v4: 20-25078837-G-A
• MyVariant Identifiers: chr20:g.25059473G>A (hg19) ; chr20:g.25078837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25078837G>A , CM000682.2:g.25078837G>A	GRCh38
NC_000020.10:g.25059473G>A , CM000682.1:g.25059473G>A	GRCh37
NC_000020.9:g.25007473G>A	NCBI36
NG_008101.1:g.8295C>T
NG_008101.2:g.8295C>T
NG_008101.3:g.8345C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376709.9:c.619C>T MANE Select	ENSP00000365899.3:p.Arg207Trp
ENST00000376707.4:c.619C>T	ENSP00000365897.3:p.Arg207Trp
ENST00000376709.8:c.619C>T	ENSP00000365899.3:p.Arg207Trp
ENST00000409285.6:c.619C>T	ENSP00000386612.2:p.Arg207Trp
ENST00000409958.6:c.619C>T	ENSP00000387069.2:p.Arg207Trp
ENST00000429762.7:c.619C>T	ENSP00000401690.3:p.Arg207Trp
ENST00000444511.6:c.619C>T	ENSP00000387720.2:p.Arg207Trp
NM_001256271.1:c.619C>T	NP_001243200.1:p.Arg207Trp
NM_001256272.1:c.619C>T	NP_001243201.1:p.Arg207Trp
NM_014588.5:c.619C>T	NP_055403.2:p.Arg207Trp
NM_199425.2:c.619C>T	NP_955457.1:p.Arg207Trp
NR_045948.1:n.902C>T
NR_045951.1:n.902C>T
XM_017027837.1:c.619C>T	XP_016883326.1:p.Arg207Trp
XM_017027838.1:c.619C>T	XP_016883327.1:p.Arg207Trp
NM_014588.6:c.619C>T MANE Select	NP_055403.2:p.Arg207Trp
NR_165181.1:n.377C>T
NM_001256271.2:c.619C>T	NP_001243200.1:p.Arg207Trp
NM_001256272.2:c.619C>T	NP_001243201.1:p.Arg207Trp
NM_199425.3:c.619C>T	NP_955457.1:p.Arg207Trp
NR_045948.2:n.664C>T
NR_045951.2:n.664C>T
NR_165181.2:n.259C>T