Canonical Allele Identifier: CA2411389698
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs2052839026

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640750G>A , CM000685.2:g.640750G>A GRCh38
NC_000023.10:g.601485G>A , CM000685.1:g.601485G>A GRCh37
NC_000023.9:g.521485G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.487-71G>A MANE Select ENSP00000508521.1:n.487-71G>A
ENST00000334060.8:c.487-71G>A ENSP00000335505.3:n.487-71G>A
ENST00000381575.6:c.487-71G>A ENSP00000370987.1:n.487-71G>A
ENST00000381578.6:c.487-71G>A ENSP00000370990.1:n.487-71G>A
ENST00000554971.6:c.487-71G>A ENSP00000452016.1:n.487-71G>A