Canonical Allele Identifier: CA515291172
Gene: SHOX HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.601783C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641048C>A , CM000685.2:g.641048C>A GRCh38
NC_000023.10:g.601783C>A , CM000685.1:g.601783C>A GRCh37
NC_000023.9:g.521783C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.594C>A MANE Select ENSP00000508521.1:p.Pro198=
ENST00000334060.8:c.594C>A ENSP00000335505.3:p.Pro198=
ENST00000381575.6:c.594C>A ENSP00000370987.1:p.Pro198=
ENST00000381578.6:c.594C>A ENSP00000370990.1:p.Pro198=
ENST00000554971.6:c.594C>A ENSP00000452016.1:p.Pro198=