Canonical Allele Identifier: CA640120877
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs1299956134
gnomAD v2: X-601541-C-A
gnomAD v4: X-640806-C-A
MyVariant Identifiers: chrX:g.601541C>A (hg19) chrX:g.640806C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640806C>A , CM000685.2:g.640806C>A GRCh38
NC_000023.10:g.601541C>A , CM000685.1:g.601541C>A GRCh37
NC_000023.9:g.521541C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.487-15C>A MANE Select ENSP00000508521.1:n.487-15C>A
ENST00000334060.8:c.487-15C>A ENSP00000335505.3:n.487-15C>A
ENST00000381575.6:c.487-15C>A ENSP00000370987.1:n.487-15C>A
ENST00000381578.6:c.487-15C>A ENSP00000370990.1:n.487-15C>A
ENST00000554971.6:c.487-15C>A ENSP00000452016.1:n.487-15C>A
Search 100 bp 5'
Search 100 bp 3'