Canonical Allele Identifier: CA128820
Gene: SHOX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.640842G>C
GRCh37 chrX:g.601577G>C
Revel Score:
ENST00000334060 0.691
ENST00000381578 0.691
ENST00000554971 0.691
ENST00000381575 0.691
ClinVar RCV:
RCV000022887
RCV000022888
ClinVar Variation:
29994
dbSNP:
397514461
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640842G>C , CM000685.2:g.640842G>C GRCh38
NC_000023.10:g.601577G>C , CM000685.1:g.601577G>C GRCh37
NC_000023.9:g.521577G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.508G>C MANE Select ENSP00000508521.1:p.Ala170Pro
ENST00000334060.8:c.508G>C ENSP00000335505.3:p.Ala170Pro
ENST00000381575.6:c.508G>C ENSP00000370987.1:p.Ala170Pro
ENST00000381578.6:c.508G>C ENSP00000370990.1:p.Ala170Pro
ENST00000554971.6:c.508G>C ENSP00000452016.1:p.Ala170Pro
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