Canonical Allele Identifier: CA412231671

Gene: SHOX

Linked Data

• dbSNP Id: rs1222850684
• gnomAD v2: X-601583-T-G
• gnomAD v4: X-640848-T-G
• MyVariant Identifiers: chrX:g.601583T>G (hg19) ; chrX:g.640848T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.640848T>G , CM000685.2:g.640848T>G	GRCh38
NC_000023.10:g.601583T>G , CM000685.1:g.601583T>G	GRCh37
NC_000023.9:g.521583T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.514T>G MANE Select	ENSP00000508521.1:p.Cys172Gly
ENST00000334060.8:c.514T>G	ENSP00000335505.3:p.Cys172Gly
ENST00000381575.6:c.514T>G	ENSP00000370987.1:p.Cys172Gly
ENST00000381578.6:c.514T>G	ENSP00000370990.1:p.Cys172Gly
ENST00000554971.6:c.514T>G	ENSP00000452016.1:p.Cys172Gly