Canonical Allele Identifier: CA412231458
Gene: SHOX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634762A>G , CM000685.2:g.634762A>G GRCh38
NC_000023.10:g.595497A>G , CM000685.1:g.595497A>G GRCh37
NC_000023.9:g.515497A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.422A>G MANE Select ENSP00000508521.1:p.Tyr141Cys
ENST00000334060.8:c.422A>G ENSP00000335505.3:p.Tyr141Cys
ENST00000381575.6:c.422A>G ENSP00000370987.1:p.Tyr141Cys
ENST00000381578.6:c.422A>G ENSP00000370990.1:p.Tyr141Cys
ENST00000554971.6:c.422A>G ENSP00000452016.1:p.Tyr141Cys