Canonical Allele Identifier: CA2356696386
Community Standard Title: NM_014588.6(VSX1):c.627+23G=
Gene: VSX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25078806C= , CM000682.2:g.25078806C= GRCh38
NC_000020.10:g.25059442C= , CM000682.1:g.25059442C= GRCh37
NC_000020.9:g.25007442C= NCBI36
NG_008101.1:g.8326G=
NG_008101.2:g.8326G=
NG_008101.3:g.8376G=

Transcript Alleles

HGVS Amino-acid Change
NM_014588.6:c.627+23G= MANE Select NP_055403.2:n.627+23G=
ENST00000376709.9:c.627+23G= MANE Select ENSP00000365899.3:n.627+23G=
NM_001256271.1:c.627+23G= NP_001243200.1:n.627+23G=
NM_001256271.2:c.627+23G= NP_001243200.1:n.627+23G=
NM_001256272.1:c.627+23G= NP_001243201.1:n.627+23G=
NM_001256272.2:c.627+23G= NP_001243201.1:n.627+23G=
NM_014588.5:c.627+23G= NP_055403.2:n.627+23G=
NM_199425.2:c.650G= NP_955457.1:p.Arg217=
NM_199425.3:c.650G= NP_955457.1:p.Arg217=
NR_045948.1:n.910+23G=
NR_045948.2:n.672+23G=
NR_045951.1:n.910+23G=
NR_045951.2:n.672+23G=
NR_165181.1:n.385+23G=
NR_165181.2:n.267+23G=
ENST00000376707.4:c.650G= ENSP00000365897.3:p.Arg217=
ENST00000376709.8:c.627+23G= ENSP00000365899.3:n.627+23G=
ENST00000409285.6:c.627+23G= ENSP00000386612.2:n.627+23G=
ENST00000409958.6:c.627+23G= ENSP00000387069.2:n.627+23G=
ENST00000429762.7:c.627+23G= ENSP00000401690.3:n.627+23G=
ENST00000444511.6:c.627+23G= ENSP00000387720.2:n.627+23G=
XM_017027837.1:c.627+23G= XP_016883326.1:n.627+23G=
XM_017027838.1:c.627+23G= XP_016883327.1:n.627+23G=