Canonical Allele Identifier: CA412231698
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs1249369035
gnomAD v2: X-601595-G-C
gnomAD v4: X-640860-G-C
MyVariant Identifiers: chrX:g.601595G>C (hg19) chrX:g.640860G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640860G>C , CM000685.2:g.640860G>C GRCh38
NC_000023.10:g.601595G>C , CM000685.1:g.601595G>C GRCh37
NC_000023.9:g.521595G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.526G>C MANE Select ENSP00000508521.1:p.Glu176Gln
ENST00000334060.8:c.526G>C ENSP00000335505.3:p.Glu176Gln
ENST00000381575.6:c.526G>C ENSP00000370987.1:p.Glu176Gln
ENST00000381578.6:c.526G>C ENSP00000370990.1:p.Glu176Gln
ENST00000554971.6:c.526G>C ENSP00000452016.1:p.Glu176Gln
Search 100 bp 5'
Search 100 bp 3'