Canonical Allele Identifier: CA412231562

Gene: SHOX

Linked Data

• MyVariant Identifiers: chrX:g.595545C>T (hg19) ; chrX:g.634810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.634810C>T , CM000685.2:g.634810C>T	GRCh38
NC_000023.10:g.595545C>T , CM000685.1:g.595545C>T	GRCh37
NC_000023.9:g.515545C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.470C>T MANE Select	ENSP00000508521.1:p.Ser157Phe
ENST00000334060.8:c.470C>T	ENSP00000335505.3:p.Ser157Phe
ENST00000381575.6:c.470C>T	ENSP00000370987.1:p.Ser157Phe
ENST00000381578.6:c.470C>T	ENSP00000370990.1:p.Ser157Phe
ENST00000554971.6:c.470C>T	ENSP00000452016.1:p.Ser157Phe