Canonical Allele Identifier: CA10330033
Gene: SHOX HGNC NCBI

Linked Data

ClinVar Variation Id: 992441
ClinVar RCV Id: RCV001280890
dbSNP Id: rs369095468
ExAC: X:601623 G / A
gnomAD v2: X-601623-G-A
gnomAD v3: X-640888-G-A
gnomAD v4: X-640888-G-A
MyVariant Identifiers: chrX:g.601623G>A (hg19) chrX:g.640888G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640888G>A , CM000685.2:g.640888G>A GRCh38
NC_000023.10:g.601623G>A , CM000685.1:g.601623G>A GRCh37
NC_000023.9:g.521623G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.544+10G>A MANE Select ENSP00000508521.1:n.544+10G>A
ENST00000334060.8:c.544+10G>A ENSP00000335505.3:n.544+10G>A
ENST00000381575.6:c.544+10G>A ENSP00000370987.1:n.544+10G>A
ENST00000381578.6:c.544+10G>A ENSP00000370990.1:n.544+10G>A
ENST00000554971.6:c.544+10G>A ENSP00000452016.1:n.544+10G>A
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