Canonical Allele Identifier: CA412231833
Gene: SHOX HGNC NCBI

Linked Data

ClinVar Variation Id: 2428621
ClinVar RCV Id: RCV003120222
dbSNP Id: rs1170991098
gnomAD v4: X-641036-C-A
MyVariant Identifiers: chrX:g.601771C>A (hg19) chrX:g.641036C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641036C>A , CM000685.2:g.641036C>A GRCh38
NC_000023.10:g.601771C>A , CM000685.1:g.601771C>A GRCh37
NC_000023.9:g.521771C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.582C>A MANE Select ENSP00000508521.1:p.Cys194Ter
ENST00000334060.8:c.582C>A ENSP00000335505.3:p.Cys194Ter
ENST00000381575.6:c.582C>A ENSP00000370987.1:p.Cys194Ter
ENST00000381578.6:c.582C>A ENSP00000370990.1:p.Cys194Ter
ENST00000554971.6:c.582C>A ENSP00000452016.1:p.Cys194Ter
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