Canonical Allele Identifier: CA254916
Gene: SHOX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.634798G>T
GRCh37 chrX:g.595533G>T
Revel Score:
ENST00000334060 0.690
ENST00000381578 0.690
ENST00000554971 0.690
ENST00000381575 0.690
ClinVar RCV:
RCV000010552
ClinVar Variation:
9876
dbSNP:
137852555
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634798G>T , CM000685.2:g.634798G>T GRCh38
NC_000023.10:g.595533G>T , CM000685.1:g.595533G>T GRCh37
NC_000023.9:g.515533G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.458G>T MANE Select ENSP00000508521.1:p.Arg153Leu
ENST00000334060.8:c.458G>T ENSP00000335505.3:p.Arg153Leu
ENST00000381575.6:c.458G>T ENSP00000370987.1:p.Arg153Leu
ENST00000381578.6:c.458G>T ENSP00000370990.1:p.Arg153Leu
ENST00000554971.6:c.458G>T ENSP00000452016.1:p.Arg153Leu
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