Canonical Allele Identifier: CA10330024
Gene: SHOX HGNC NCBI

Linked Data

ClinVar Variation Id: 448373
ClinVar RCV Id: RCV000518475
dbSNP Id: rs778921118
ExAC: X:601597 G / T
gnomAD v2: X-601597-G-T
gnomAD v3: X-640862-G-T
gnomAD v4: X-640862-G-T
MyVariant Identifiers: chrX:g.601597G>T (hg19) chrX:g.640862G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640862G>T , CM000685.2:g.640862G>T GRCh38
NC_000023.10:g.601597G>T , CM000685.1:g.601597G>T GRCh37
NC_000023.9:g.521597G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.528G>T MANE Select ENSP00000508521.1:p.Glu176Asp
ENST00000334060.8:c.528G>T ENSP00000335505.3:p.Glu176Asp
ENST00000381575.6:c.528G>T ENSP00000370987.1:p.Glu176Asp
ENST00000381578.6:c.528G>T ENSP00000370990.1:p.Glu176Asp
ENST00000554971.6:c.528G>T ENSP00000452016.1:p.Glu176Asp
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