Canonical Allele Identifier: CA412231715
Gene: SHOX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640867A>C , CM000685.2:g.640867A>C GRCh38
NC_000023.10:g.601602A>C , CM000685.1:g.601602A>C GRCh37
NC_000023.9:g.521602A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.533A>C MANE Select ENSP00000508521.1:p.Gln178Pro
ENST00000334060.8:c.533A>C ENSP00000335505.3:p.Gln178Pro
ENST00000381575.6:c.533A>C ENSP00000370987.1:p.Gln178Pro
ENST00000381578.6:c.533A>C ENSP00000370990.1:p.Gln178Pro
ENST00000554971.6:c.533A>C ENSP00000452016.1:p.Gln178Pro