Canonical Allele Identifier: CA9793589
Gene: VSX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 100940
dbSNP Id: rs12480307

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25078910T>C , CM000682.2:g.25078910T>C GRCh38
NC_000020.10:g.25059546T>C , CM000682.1:g.25059546T>C GRCh37
NC_000020.9:g.25007546T>C NCBI36
NG_008101.1:g.8222A>G
NG_008101.2:g.8222A>G
NG_008101.3:g.8272A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376709.9:c.546A>G MANE Select ENSP00000365899.3:p.Ala182=
ENST00000376707.4:c.546A>G ENSP00000365897.3:p.Ala182=
ENST00000376709.8:c.546A>G ENSP00000365899.3:p.Ala182=
ENST00000409285.6:c.546A>G ENSP00000386612.2:p.Ala182=
ENST00000409958.6:c.546A>G ENSP00000387069.2:p.Ala182=
ENST00000429762.7:c.546A>G ENSP00000401690.3:p.Ala182=
ENST00000444511.6:c.546A>G ENSP00000387720.2:p.Ala182=
NM_001256271.1:c.546A>G NP_001243200.1:p.Ala182=
NM_001256272.1:c.546A>G NP_001243201.1:p.Ala182=
NM_014588.5:c.546A>G NP_055403.2:p.Ala182=
NM_199425.2:c.546A>G NP_955457.1:p.Ala182=
NR_045948.1:n.829A>G
NR_045951.1:n.829A>G
XM_017027837.1:c.546A>G XP_016883326.1:p.Ala182=
XM_017027838.1:c.546A>G XP_016883327.1:p.Ala182=
NM_014588.6:c.546A>G MANE Select NP_055403.2:p.Ala182=
NR_165181.1:n.304A>G
NM_001256271.2:c.546A>G NP_001243200.1:p.Ala182=
NM_001256272.2:c.546A>G NP_001243201.1:p.Ala182=
NM_199425.3:c.546A>G NP_955457.1:p.Ala182=
NR_045948.2:n.591A>G
NR_045951.2:n.591A>G
NR_165181.2:n.186A>G