Canonical Allele Identifier: CA10330066
Gene: SHOX HGNC NCBI

Linked Data

ClinVar Variation Id: 287763
ClinVar RCV Id: RCV000344860 RCV002222476
dbSNP Id: rs376330042
ExAC: X:601766 G / A
gnomAD v2: X-601766-G-A
gnomAD v3: X-641031-G-A
gnomAD v4: X-641031-G-A
MyVariant Identifiers: chrX:g.601766G>A (hg19) chrX:g.641031G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641031G>A , CM000685.2:g.641031G>A GRCh38
NC_000023.10:g.601766G>A , CM000685.1:g.601766G>A GRCh37
NC_000023.9:g.521766G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.577G>A MANE Select ENSP00000508521.1:p.Ala193Thr
ENST00000334060.8:c.577G>A ENSP00000335505.3:p.Ala193Thr
ENST00000381575.6:c.577G>A ENSP00000370987.1:p.Ala193Thr
ENST00000381578.6:c.577G>A ENSP00000370990.1:p.Ala193Thr
ENST00000554971.6:c.577G>A ENSP00000452016.1:p.Ala193Thr
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