Canonical Allele Identifier: CA877166669

Gene: SHOX

Linked Data

• dbSNP Id: rs1286105301
• gnomAD v3: X-641267-T-C
• gnomAD v4: X-641267-T-C
• MyVariant Identifiers: chrX:g.602002T>C (hg19) ; chrX:g.641267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.641267T>C , CM000685.2:g.641267T>C	GRCh38
NC_000023.10:g.602002T>C , CM000685.1:g.602002T>C	GRCh37
NC_000023.9:g.522002T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.633+180T>C MANE Select	ENSP00000508521.1:n.633+180T>C
ENST00000334060.8:c.633+180T>C	ENSP00000335505.3:n.633+180T>C
ENST00000381575.6:c.633+180T>C	ENSP00000370987.1:n.633+180T>C
ENST00000381578.6:c.633+180T>C	ENSP00000370990.1:n.633+180T>C
ENST00000554971.6:c.633+180T>C	ENSP00000452016.1:n.633+180T>C