Canonical Allele Identifier: CA412231481
Gene: SHOX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634774T>A , CM000685.2:g.634774T>A GRCh38
NC_000023.10:g.595509T>A , CM000685.1:g.595509T>A GRCh37
NC_000023.9:g.515509T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.434T>A MANE Select ENSP00000508521.1:p.Phe145Tyr
ENST00000334060.8:c.434T>A ENSP00000335505.3:p.Phe145Tyr
ENST00000381575.6:c.434T>A ENSP00000370987.1:p.Phe145Tyr
ENST00000381578.6:c.434T>A ENSP00000370990.1:p.Phe145Tyr
ENST00000554971.6:c.434T>A ENSP00000452016.1:p.Phe145Tyr