Canonical Allele Identifier: CA2738198655
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs2124183982

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641254A>T , CM000685.2:g.641254A>T GRCh38
NC_000023.10:g.601989A>T , CM000685.1:g.601989A>T GRCh37
NC_000023.9:g.521989A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.633+167A>T MANE Select ENSP00000508521.1:n.633+167A>T
ENST00000334060.8:c.633+167A>T ENSP00000335505.3:n.633+167A>T
ENST00000381575.6:c.633+167A>T ENSP00000370987.1:n.633+167A>T
ENST00000381578.6:c.633+167A>T ENSP00000370990.1:n.633+167A>T
ENST00000554971.6:c.633+167A>T ENSP00000452016.1:n.633+167A>T