Canonical Allele Identifier: CA9793591

Gene: VSX1

Linked Data

• dbSNP Id: rs754775590
• ExAC: 20:25059558 C / T
• gnomAD v2: 20-25059558-C-T
• gnomAD v4: 20-25078922-C-T
• MyVariant Identifiers: chr20:g.25059558C>T (hg19) ; chr20:g.25078922C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25078922C>T , CM000682.2:g.25078922C>T	GRCh38
NC_000020.10:g.25059558C>T , CM000682.1:g.25059558C>T	GRCh37
NC_000020.9:g.25007558C>T	NCBI36
NG_008101.1:g.8210G>A
NG_008101.2:g.8210G>A
NG_008101.3:g.8260G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376709.9:c.534G>A MANE Select	ENSP00000365899.3:p.Glu178=
ENST00000376707.4:c.534G>A	ENSP00000365897.3:p.Glu178=
ENST00000376709.8:c.534G>A	ENSP00000365899.3:p.Glu178=
ENST00000409285.6:c.534G>A	ENSP00000386612.2:p.Glu178=
ENST00000409958.6:c.534G>A	ENSP00000387069.2:p.Glu178=
ENST00000429762.7:c.534G>A	ENSP00000401690.3:p.Glu178=
ENST00000444511.6:c.534G>A	ENSP00000387720.2:p.Glu178=
NM_001256271.1:c.534G>A	NP_001243200.1:p.Glu178=
NM_001256272.1:c.534G>A	NP_001243201.1:p.Glu178=
NM_014588.5:c.534G>A	NP_055403.2:p.Glu178=
NM_199425.2:c.534G>A	NP_955457.1:p.Glu178=
NR_045948.1:n.817G>A
NR_045951.1:n.817G>A
XM_017027837.1:c.534G>A	XP_016883326.1:p.Glu178=
XM_017027838.1:c.534G>A	XP_016883327.1:p.Glu178=
NM_014588.6:c.534G>A MANE Select	NP_055403.2:p.Glu178=
NR_165181.1:n.292G>A
NM_001256271.2:c.534G>A	NP_001243200.1:p.Glu178=
NM_001256272.2:c.534G>A	NP_001243201.1:p.Glu178=
NM_199425.3:c.534G>A	NP_955457.1:p.Glu178=
NR_045948.2:n.579G>A
NR_045951.2:n.579G>A
NR_165181.2:n.174G>A