Canonical Allele Identifier: CA214250
Gene: SHOX HGNC NCBI

Linked Data

ClinVar Variation Id: 36775
ClinVar RCV Id: RCV000030454 RCV000713277 RCV002277105
dbSNP Id: rs193922467
ExAC: X:595475 C / A
gnomAD v2: X-595475-C-A
gnomAD v3: X-634740-C-A
gnomAD v4: X-634740-C-A
MyVariant Identifiers: chrX:g.595475C>A (hg19) chrX:g.634740C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634740C>A , CM000685.2:g.634740C>A GRCh38
NC_000023.10:g.595475C>A , CM000685.1:g.595475C>A GRCh37
NC_000023.9:g.515475C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.400C>A MANE Select ENSP00000508521.1:p.Arg134=
ENST00000334060.8:c.400C>A ENSP00000335505.3:p.Arg134=
ENST00000381575.6:c.400C>A ENSP00000370987.1:p.Arg134=
ENST00000381578.6:c.400C>A ENSP00000370990.1:p.Arg134=
ENST00000554971.6:c.400C>A ENSP00000452016.1:p.Arg134=
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