Canonical Allele Identifier: CA2356695792
Gene: VSX1 HGNC NCBI

Linked Data

dbSNP Id: rs2089530054

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25077655A>G , CM000682.2:g.25077655A>G GRCh38
NC_000020.10:g.25058291A>G , CM000682.1:g.25058291A>G GRCh37
NC_000020.9:g.25006291A>G NCBI36
NG_008101.1:g.9477T>C
NG_008101.2:g.9477T>C
NG_008101.3:g.9527T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376709.9:c.808+30T>C MANE Select ENSP00000365899.3:n.808+30T>C
ENST00000376709.8:c.808+30T>C ENSP00000365899.3:n.808+30T>C
ENST00000409285.6:c.808+30T>C ENSP00000386612.2:n.808+30T>C
ENST00000409958.6:c.627+1174T>C ENSP00000387069.2:n.627+1174T>C
ENST00000429762.7:c.808+30T>C ENSP00000401690.3:n.808+30T>C
ENST00000444511.6:c.627+1174T>C ENSP00000387720.2:n.627+1174T>C
ENST00000557285.1:n.315+30T>C
NM_001256271.1:c.627+1174T>C NP_001243200.1:n.627+1174T>C
NM_001256272.1:c.808+30T>C NP_001243201.1:n.808+30T>C
NM_014588.5:c.808+30T>C NP_055403.2:n.808+30T>C
NR_045948.1:n.1091+30T>C
NR_045951.1:n.910+1174T>C
XM_017027837.1:c.808+30T>C XP_016883326.1:n.808+30T>C
XM_017027838.1:c.627+1174T>C XP_016883327.1:n.627+1174T>C
NM_014588.6:c.808+30T>C MANE Select NP_055403.2:n.808+30T>C
NR_165181.1:n.818+30T>C
NR_165182.1:n.368+30T>C
NR_165183.1:n.368+30T>C
NR_165184.1:n.368+30T>C
NM_001256271.2:c.627+1174T>C NP_001243200.1:n.627+1174T>C
NM_001256272.2:c.808+30T>C NP_001243201.1:n.808+30T>C
NM_001378633.1:c.115+30T>C NP_001365562.1:n.115+30T>C
NR_045948.2:n.853+30T>C
NR_045951.2:n.672+1174T>C
NR_165181.2:n.700+30T>C
NR_165182.2:n.368+30T>C
NR_165183.2:n.368+30T>C