Canonical Allele Identifier: CA412231847

Gene: SHOX

Linked Data

• MyVariant Identifiers: chrX:g.601779C>G (hg19) ; chrX:g.641044C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.641044C>G , CM000685.2:g.641044C>G	GRCh38
NC_000023.10:g.601779C>G , CM000685.1:g.601779C>G	GRCh37
NC_000023.9:g.521779C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.590C>G MANE Select	ENSP00000508521.1:p.Ala197Gly
ENST00000334060.8:c.590C>G	ENSP00000335505.3:p.Ala197Gly
ENST00000381575.6:c.590C>G	ENSP00000370987.1:p.Ala197Gly
ENST00000381578.6:c.590C>G	ENSP00000370990.1:p.Ala197Gly
ENST00000554971.6:c.590C>G	ENSP00000452016.1:p.Ala197Gly