Canonical Allele Identifier: CA2692951923
Gene: SHOX HGNC NCBI

Linked Data

gnomAD v4: X-641208-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641208T>C , CM000685.2:g.641208T>C GRCh38
NC_000023.10:g.601943T>C , CM000685.1:g.601943T>C GRCh37
NC_000023.9:g.521943T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.633+121T>C MANE Select ENSP00000508521.1:n.633+121T>C
ENST00000334060.8:c.633+121T>C ENSP00000335505.3:n.633+121T>C
ENST00000381575.6:c.633+121T>C ENSP00000370987.1:n.633+121T>C
ENST00000381578.6:c.633+121T>C ENSP00000370990.1:n.633+121T>C
ENST00000554971.6:c.633+121T>C ENSP00000452016.1:n.633+121T>C
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