Canonical Allele Identifier: CA412231698

Gene: SHOX

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)

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