Canonical Allele Identifier: CA10330055

Gene: SHOX

Linked Data

• ClinVar Variation Id: 805451
• ClinVar RCV Id: RCV000992978 ; RCV002307650
• dbSNP Id: rs370327147
• ExAC: X:601724 T / C
• gnomAD v2: X-601724-T-C
• gnomAD v3: X-640989-T-C
• gnomAD v4: X-640989-T-C
• MyVariant Identifiers: chrX:g.601724T>C (hg19) ; chrX:g.640989T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.640989T>C , CM000685.2:g.640989T>C	GRCh38
NC_000023.10:g.601724T>C , CM000685.1:g.601724T>C	GRCh37
NC_000023.9:g.521724T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.545-10T>C MANE Select	ENSP00000508521.1:n.545-10T>C
ENST00000334060.8:c.545-10T>C	ENSP00000335505.3:n.545-10T>C
ENST00000381575.6:c.545-10T>C	ENSP00000370987.1:n.545-10T>C
ENST00000381578.6:c.545-10T>C	ENSP00000370990.1:n.545-10T>C
ENST00000554971.6:c.545-10T>C	ENSP00000452016.1:n.545-10T>C