Canonical Allele Identifier: CA10329972
Gene: SHOX HGNC NCBI

Linked Data

ClinVar Variation Id: 995259
ClinVar RCV Id: RCV001289219
dbSNP Id: rs780800997
ExAC: X:595495 T / C
gnomAD v2: X-595495-T-C
gnomAD v3: X-634760-T-C
gnomAD v4: X-634760-T-C
MyVariant Identifiers: chrX:g.595495T>C (hg19) chrX:g.634760T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634760T>C , CM000685.2:g.634760T>C GRCh38
NC_000023.10:g.595495T>C , CM000685.1:g.595495T>C GRCh37
NC_000023.9:g.515495T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.420T>C MANE Select ENSP00000508521.1:p.His140=
ENST00000334060.8:c.420T>C ENSP00000335505.3:p.His140=
ENST00000381575.6:c.420T>C ENSP00000370987.1:p.His140=
ENST00000381578.6:c.420T>C ENSP00000370990.1:p.His140=
ENST00000554971.6:c.420T>C ENSP00000452016.1:p.His140=
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