Canonical Allele Identifier: CA10329938
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs757485745
gnomAD v2: X-595348-C-A
gnomAD v4: X-634613-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634613C>A , CM000685.2:g.634613C>A GRCh38
NC_000023.10:g.595348C>A , CM000685.1:g.595348C>A GRCh37
NC_000023.9:g.515348C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.278-5C>A MANE Select ENSP00000508521.1:n.278-5C>A
ENST00000334060.8:c.278-5C>A ENSP00000335505.3:n.278-5C>A
ENST00000381575.6:c.278-5C>A ENSP00000370987.1:n.278-5C>A
ENST00000381578.6:c.278-5C>A ENSP00000370990.1:n.278-5C>A
ENST00000554971.6:c.278-5C>A ENSP00000452016.1:n.278-5C>A