Canonical Allele Identifier: CA2692951840
Gene: SHOX HGNC NCBI

Linked Data

gnomAD v4: X-634535-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634535C>G , CM000685.2:g.634535C>G GRCh38
NC_000023.10:g.595270C>G , CM000685.1:g.595270C>G GRCh37
NC_000023.9:g.515270C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.278-83C>G MANE Select ENSP00000508521.1:n.278-83C>G
ENST00000334060.8:c.278-83C>G ENSP00000335505.3:n.278-83C>G
ENST00000381575.6:c.278-83C>G ENSP00000370987.1:n.278-83C>G
ENST00000381578.6:c.278-83C>G ENSP00000370990.1:n.278-83C>G
ENST00000554971.6:c.278-83C>G ENSP00000452016.1:n.278-83C>G