Canonical Allele Identifier: CA412231414
Gene: SHOX HGNC NCBI

Linked Data

gnomAD v4: X-634743-C-T
MyVariant Identifiers: chrX:g.595478C>T (hg19) chrX:g.634743C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634743C>T , CM000685.2:g.634743C>T GRCh38
NC_000023.10:g.595478C>T , CM000685.1:g.595478C>T GRCh37
NC_000023.9:g.515478C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.403C>T MANE Select ENSP00000508521.1:p.Leu135Phe
ENST00000334060.8:c.403C>T ENSP00000335505.3:p.Leu135Phe
ENST00000381575.6:c.403C>T ENSP00000370987.1:p.Leu135Phe
ENST00000381578.6:c.403C>T ENSP00000370990.1:p.Leu135Phe
ENST00000554971.6:c.403C>T ENSP00000452016.1:p.Leu135Phe
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