Canonical Allele Identifier: CA10329943
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs776301574
ExAC: X:595372 G / C
gnomAD v2: X-595372-G-C
gnomAD v3: X-634637-G-C
gnomAD v4: X-634637-G-C
MyVariant Identifiers: chrX:g.595372G>C (hg19) chrX:g.634637G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634637G>C , CM000685.2:g.634637G>C GRCh38
NC_000023.10:g.595372G>C , CM000685.1:g.595372G>C GRCh37
NC_000023.9:g.515372G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000686671.1:c.297G>C MANE Select ENSP00000508521.1:p.Glu99Asp
ENST00000334060.8:c.297G>C ENSP00000335505.3:p.Glu99Asp
ENST00000381575.6:c.297G>C ENSP00000370987.1:p.Glu99Asp
ENST00000381578.6:c.297G>C ENSP00000370990.1:p.Glu99Asp
ENST00000554971.6:c.297G>C ENSP00000452016.1:p.Glu99Asp
Search 100 bp 5'
Search 100 bp 3'