Canonical Allele Identifier: CA259732
Gene: SHOX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.640843C>A
GRCh37 chrX:g.601578C>A
Revel Score:
ENST00000334060 0.653
ENST00000381578 0.653
ENST00000554971 0.653
ENST00000381575 0.653
ClinVar RCV:
RCV000022889
ClinVar Variation:
29995
dbSNP:
397514462
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640843C>A , CM000685.2:g.640843C>A GRCh38
NC_000023.10:g.601578C>A , CM000685.1:g.601578C>A GRCh37
NC_000023.9:g.521578C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.509C>A MANE Select ENSP00000508521.1:p.Ala170Asp
ENST00000334060.8:c.509C>A ENSP00000335505.3:p.Ala170Asp
ENST00000381575.6:c.509C>A ENSP00000370987.1:p.Ala170Asp
ENST00000381578.6:c.509C>A ENSP00000370990.1:p.Ala170Asp
ENST00000554971.6:c.509C>A ENSP00000452016.1:p.Ala170Asp
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