Canonical Allele Identifier: CA412231194
Gene: SHOX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.595374A>C (hg19) chrX:g.634639A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634639A>C , CM000685.2:g.634639A>C GRCh38
NC_000023.10:g.595374A>C , CM000685.1:g.595374A>C GRCh37
NC_000023.9:g.515374A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000686671.1:c.299A>C MANE Select ENSP00000508521.1:p.Lys100Thr
ENST00000334060.8:c.299A>C ENSP00000335505.3:p.Lys100Thr
ENST00000381575.6:c.299A>C ENSP00000370987.1:p.Lys100Thr
ENST00000381578.6:c.299A>C ENSP00000370990.1:p.Lys100Thr
ENST00000554971.6:c.299A>C ENSP00000452016.1:p.Lys100Thr
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