Canonical Allele Identifier: CA412231195
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs2052709435
MyVariant Identifiers: chrX:g.595374A>G (hg19) chrX:g.634639A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000686671.1:c.299A>G MANE Select ENSP00000508521.1:p.Lys100Arg
ENST00000334060.8:c.299A>G ENSP00000335505.3:p.Lys100Arg
ENST00000381575.6:c.299A>G ENSP00000370987.1:p.Lys100Arg
ENST00000381578.6:c.299A>G ENSP00000370990.1:p.Lys100Arg
ENST00000554971.6:c.299A>G ENSP00000452016.1:p.Lys100Arg
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