Canonical Allele Identifier: CA325616532
Gene: SHOX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.624523C>T
GRCh37 chrX:g.585258C>T
gnomAD v2:
X:585258 C / T
gnomAD v3:
X:624523 C / T
gnomAD v4:
chrX-624523-C-T
Joint Max Group AF 0.00065079 (NFE)
Genomes Max Group AF 0.00065139 (NFE)
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Genomic Alleles

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

Transcript Alleles

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