Canonical Allele Identifier: CA10329977
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs755649879
ExAC: X:595508 T / C
gnomAD v2: X-595508-T-C
gnomAD v4: X-634773-T-C
MyVariant Identifiers: chrX:g.595508T>C (hg19) chrX:g.634773T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634773T>C , CM000685.2:g.634773T>C GRCh38
NC_000023.10:g.595508T>C , CM000685.1:g.595508T>C GRCh37
NC_000023.9:g.515508T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.433T>C MANE Select ENSP00000508521.1:p.Phe145Leu
ENST00000334060.8:c.433T>C ENSP00000335505.3:p.Phe145Leu
ENST00000381575.6:c.433T>C ENSP00000370987.1:p.Phe145Leu
ENST00000381578.6:c.433T>C ENSP00000370990.1:p.Phe145Leu
ENST00000554971.6:c.433T>C ENSP00000452016.1:p.Phe145Leu
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