Canonical Allele Identifier: CA246577
Gene: SHOX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.644627G>A
GRCh37 chrX:g.605362G>A
gnomAD v2:
X:605362 G / A
gnomAD v3:
X:644627 G / A
gnomAD v4:
chrX-644627-G-A
Joint Max Group AF 0.03154878 (AFR)
Genomes Max Group AF 0.02932254 (AFR)
Exomes Max Group AF 0.0337858 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.644627G>A , CM000685.2:g.644627G>A GRCh38
NC_000023.10:g.605362G>A , CM000685.1:g.605362G>A GRCh37
NC_000023.9:g.525362G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.870G>A MANE Select ENSP00000508521.1:p.Leu290=
ENST00000334060.8:c.633+3540G>A ENSP00000335505.3:n.633+3540G>A
ENST00000381575.6:c.633+3540G>A ENSP00000370987.1:n.633+3540G>A
ENST00000381578.6:c.870G>A ENSP00000370990.1:p.Leu290=
ENST00000554971.6:c.870G>A ENSP00000452016.1:p.Leu290=
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