Canonical Allele Identifier: CA2411389847
Gene: SHOX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641025C= , CM000685.2:g.641025C= GRCh38
NC_000023.10:g.601760C= , CM000685.1:g.601760C= GRCh37
NC_000023.9:g.521760C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.571C= MANE Select ENSP00000508521.1:p.Leu191=
ENST00000334060.8:c.571C= ENSP00000335505.3:p.Leu191=
ENST00000381575.6:c.571C= ENSP00000370987.1:p.Leu191=
ENST00000381578.6:c.571C= ENSP00000370990.1:p.Leu191=
ENST00000554971.6:c.571C= ENSP00000452016.1:p.Leu191=
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