Canonical Allele Identifier: CA2356696390
Gene: VSX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.25078817G= , CM000682.2:g.25078817G= GRCh38
NC_000020.10:g.25059453G= , CM000682.1:g.25059453G= GRCh37
NC_000020.9:g.25007453G= NCBI36
NG_008101.1:g.8315C=
NG_008101.2:g.8315C=
NG_008101.3:g.8365C=

Transcript Alleles

HGVS Amino-acid change
ENST00000376709.9:c.627+12C= MANE Select ENSP00000365899.3:n.627+12C=
ENST00000376707.4:c.639C= ENSP00000365897.3:p.Val213=
ENST00000376709.8:c.627+12C= ENSP00000365899.3:n.627+12C=
ENST00000409285.6:c.627+12C= ENSP00000386612.2:n.627+12C=
ENST00000409958.6:c.627+12C= ENSP00000387069.2:n.627+12C=
ENST00000429762.7:c.627+12C= ENSP00000401690.3:n.627+12C=
ENST00000444511.6:c.627+12C= ENSP00000387720.2:n.627+12C=
NM_001256271.1:c.627+12C= NP_001243200.1:n.627+12C=
NM_001256272.1:c.627+12C= NP_001243201.1:n.627+12C=
NM_014588.5:c.627+12C= NP_055403.2:n.627+12C=
NM_199425.2:c.639C= NP_955457.1:p.Val213=
NR_045948.1:n.910+12C=
NR_045951.1:n.910+12C=
XM_017027837.1:c.627+12C= XP_016883326.1:n.627+12C=
XM_017027838.1:c.627+12C= XP_016883327.1:n.627+12C=
NM_014588.6:c.627+12C= MANE Select NP_055403.2:n.627+12C=
NR_165181.1:n.385+12C=
NM_001256271.2:c.627+12C= NP_001243200.1:n.627+12C=
NM_001256272.2:c.627+12C= NP_001243201.1:n.627+12C=
NM_199425.3:c.639C= NP_955457.1:p.Val213=
NR_045948.2:n.672+12C=
NR_045951.2:n.672+12C=
NR_165181.2:n.267+12C=