Canonical Allele Identifier: CA640121528

Gene: SHOX

Linked Data

• dbSNP Id: rs1427442813
• gnomAD v2: X-602022-C-T
• gnomAD v3: X-641287-C-T
• gnomAD v4: X-641287-C-T
• MyVariant Identifiers: chrX:g.602022C>T (hg19) ; chrX:g.641287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.641287C>T , CM000685.2:g.641287C>T	GRCh38
NC_000023.10:g.602022C>T , CM000685.1:g.602022C>T	GRCh37
NC_000023.9:g.522022C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.633+200C>T MANE Select	ENSP00000508521.1:n.633+200C>T
ENST00000334060.8:c.633+200C>T	ENSP00000335505.3:n.633+200C>T
ENST00000381575.6:c.633+200C>T	ENSP00000370987.1:n.633+200C>T
ENST00000381578.6:c.633+200C>T	ENSP00000370990.1:n.633+200C>T
ENST00000554971.6:c.633+200C>T	ENSP00000452016.1:n.633+200C>T