Canonical Allele Identifier: CA2692951884
Gene: SHOX HGNC NCBI

Linked Data

gnomAD v4: X-641149-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641149C>G , CM000685.2:g.641149C>G GRCh38
NC_000023.10:g.601884C>G , CM000685.1:g.601884C>G GRCh37
NC_000023.9:g.521884C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.633+62C>G MANE Select ENSP00000508521.1:n.633+62C>G
ENST00000334060.8:c.633+62C>G ENSP00000335505.3:n.633+62C>G
ENST00000381575.6:c.633+62C>G ENSP00000370987.1:n.633+62C>G
ENST00000381578.6:c.633+62C>G ENSP00000370990.1:n.633+62C>G
ENST00000554971.6:c.633+62C>G ENSP00000452016.1:n.633+62C>G