Canonical Allele Identifier: CA213116
Gene: SHOX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.624523C>A
GRCh37 chrX:g.585258C>A
gnomAD v2:
X:585258 C / A
gnomAD v3:
X:624523 C / A
gnomAD v4:
chrX-624523-C-A
Joint Max Group AF 0.1243826 (MID)
Genomes Max Group AF 0.0396317 (AFR)
Exomes Max Group AF 0.00555215 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.624523C>A , CM000685.2:g.624523C>A GRCh38
NC_000023.10:g.585258C>A , CM000685.1:g.585258C>A GRCh37
NC_000023.9:g.505258C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334060.8:c.-512C>A ENSP00000335505.3:n.-512C>A
ENST00000381578.6:c.-512C>A ENSP00000370990.1:n.-512C>A
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