Canonical Allele Identifier: CA212923
Gene: SHOX HGNC NCBI

Linked Data

ClinVar Variation Id: 9879
ClinVar RCV Id: RCV000010555 RCV000010556
dbSNP Id: rs137852557
gnomAD v2: X-601571-C-T
gnomAD v4: X-640836-C-T
MyVariant Identifiers: chrX:g.601571C>T (hg19) chrX:g.640836C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640836C>T , CM000685.2:g.640836C>T GRCh38
NC_000023.10:g.601571C>T , CM000685.1:g.601571C>T GRCh37
NC_000023.9:g.521571C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.502C>T MANE Select ENSP00000508521.1:p.Arg168Trp
ENST00000334060.8:c.502C>T ENSP00000335505.3:p.Arg168Trp
ENST00000381575.6:c.502C>T ENSP00000370987.1:p.Arg168Trp
ENST00000381578.6:c.502C>T ENSP00000370990.1:p.Arg168Trp
ENST00000554971.6:c.502C>T ENSP00000452016.1:p.Arg168Trp
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