Canonical Allele Identifier: CA254913
Gene: SHOX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.634734C>G
GRCh37 chrX:g.595469C>G
Revel Score:
ENST00000334060 0.707
ENST00000381578 0.707
ENST00000554971 0.707
ENST00000381575 0.707
ClinVar RCV:
RCV000010551
ClinVar Variation:
9875
dbSNP:
137852554
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634734C>G , CM000685.2:g.634734C>G GRCh38
NC_000023.10:g.595469C>G , CM000685.1:g.595469C>G GRCh37
NC_000023.9:g.515469C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.394C>G MANE Select ENSP00000508521.1:p.Leu132Val
ENST00000334060.8:c.394C>G ENSP00000335505.3:p.Leu132Val
ENST00000381575.6:c.394C>G ENSP00000370987.1:p.Leu132Val
ENST00000381578.6:c.394C>G ENSP00000370990.1:p.Leu132Val
ENST00000554971.6:c.394C>G ENSP00000452016.1:p.Leu132Val
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