Canonical Allele Identifier: CA9793617

Gene: VSX1

Linked Data

• dbSNP Id: rs74315432
• ExAC: 20:25060079 G / T
• gnomAD v2: 20-25060079-G-T
• gnomAD v3: 20-25079443-G-T
• gnomAD v4: 20-25079443-G-T
• MyVariant Identifiers: chr20:g.25060079G>T (hg19) ; chr20:g.25079443G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25079443G>T , CM000682.2:g.25079443G>T	GRCh38
NC_000020.10:g.25060079G>T , CM000682.1:g.25060079G>T	GRCh37
NC_000020.9:g.25008079G>T	NCBI36
NG_008101.1:g.7689C>A
NG_008101.2:g.7689C>A
NG_008101.3:g.7739C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376709.9:c.496C>A MANE Select	ENSP00000365899.3:p.Arg166=
ENST00000376707.4:c.496C>A	ENSP00000365897.3:p.Arg166=
ENST00000376709.8:c.496C>A	ENSP00000365899.3:p.Arg166=
ENST00000409285.6:c.496C>A	ENSP00000386612.2:p.Arg166=
ENST00000409958.6:c.496C>A	ENSP00000387069.2:p.Arg166=
ENST00000429762.7:c.496C>A	ENSP00000401690.3:p.Arg166=
ENST00000444511.6:c.496C>A	ENSP00000387720.2:p.Arg166=
NM_001256271.1:c.496C>A	NP_001243200.1:p.Arg166=
NM_001256272.1:c.496C>A	NP_001243201.1:p.Arg166=
NM_014588.5:c.496C>A	NP_055403.2:p.Arg166=
NM_199425.2:c.496C>A	NP_955457.1:p.Arg166=
NR_045948.1:n.779C>A
NR_045951.1:n.779C>A
XM_017027837.1:c.496C>A	XP_016883326.1:p.Arg166=
XM_017027838.1:c.496C>A	XP_016883327.1:p.Arg166=
NM_014588.6:c.496C>A MANE Select	NP_055403.2:p.Arg166=
NR_165181.1:n.254C>A
NM_001256271.2:c.496C>A	NP_001243200.1:p.Arg166=
NM_001256272.2:c.496C>A	NP_001243201.1:p.Arg166=
NM_199425.3:c.496C>A	NP_955457.1:p.Arg166=
NR_045948.2:n.541C>A
NR_045951.2:n.541C>A
NR_165181.2:n.136C>A