Canonical Allele Identifier: CA515290985
Gene: SHOX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.601753C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641018C>A , CM000685.2:g.641018C>A GRCh38
NC_000023.10:g.601753C>A , CM000685.1:g.601753C>A GRCh37
NC_000023.9:g.521753C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.564C>A MANE Select ENSP00000508521.1:p.Ala188=
ENST00000334060.8:c.564C>A ENSP00000335505.3:p.Ala188=
ENST00000381575.6:c.564C>A ENSP00000370987.1:p.Ala188=
ENST00000381578.6:c.564C>A ENSP00000370990.1:p.Ala188=
ENST00000554971.6:c.564C>A ENSP00000452016.1:p.Ala188=