Canonical Allele Identifier: CA742438045

Gene: VSX1

Linked Data

• dbSNP Id: rs1423306235
• gnomAD v3: 20-25077632-C-A
• gnomAD v4: 20-25077632-C-A
• MyVariant Identifiers: chr20:g.25058268C>A (hg19) ; chr20:g.25077632C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25077632C>A , CM000682.2:g.25077632C>A	GRCh38
NC_000020.10:g.25058268C>A , CM000682.1:g.25058268C>A	GRCh37
NC_000020.9:g.25006268C>A	NCBI36
NG_008101.1:g.9500G>T
NG_008101.2:g.9500G>T
NG_008101.3:g.9550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376709.9:c.808+53G>T MANE Select	ENSP00000365899.3:n.808+53G>T
ENST00000376709.8:c.808+53G>T	ENSP00000365899.3:n.808+53G>T
ENST00000409285.6:c.808+53G>T	ENSP00000386612.2:n.808+53G>T
ENST00000409958.6:c.627+1197G>T	ENSP00000387069.2:n.627+1197G>T
ENST00000429762.7:c.808+53G>T	ENSP00000401690.3:n.808+53G>T
ENST00000444511.6:c.627+1197G>T	ENSP00000387720.2:n.627+1197G>T
ENST00000557285.1:n.315+53G>T
NM_001256271.1:c.627+1197G>T	NP_001243200.1:n.627+1197G>T
NM_001256272.1:c.808+53G>T	NP_001243201.1:n.808+53G>T
NM_014588.5:c.808+53G>T	NP_055403.2:n.808+53G>T
NR_045948.1:n.1091+53G>T
NR_045951.1:n.910+1197G>T
XM_017027837.1:c.808+53G>T	XP_016883326.1:n.808+53G>T
XM_017027838.1:c.627+1197G>T	XP_016883327.1:n.627+1197G>T
NM_014588.6:c.808+53G>T MANE Select	NP_055403.2:n.808+53G>T
NR_165181.1:n.818+53G>T
NR_165182.1:n.368+53G>T
NR_165183.1:n.368+53G>T
NR_165184.1:n.368+53G>T
NM_001256271.2:c.627+1197G>T	NP_001243200.1:n.627+1197G>T
NM_001256272.2:c.808+53G>T	NP_001243201.1:n.808+53G>T
NM_001378633.1:c.115+53G>T	NP_001365562.1:n.115+53G>T
NR_045948.2:n.853+53G>T
NR_045951.2:n.672+1197G>T
NR_165181.2:n.700+53G>T
NR_165182.2:n.368+53G>T
NR_165183.2:n.368+53G>T