Canonical Allele Identifier: CA10329945
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs758706054
ExAC: X:595377 G / A
gnomAD v2: X-595377-G-A
gnomAD v3: X-634642-G-A
gnomAD v4: X-634642-G-A
COSMIC: COSM3694676 COSM5097720
MyVariant Identifiers: chrX:g.595377G>A (hg19) chrX:g.634642G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634642G>A , CM000685.2:g.634642G>A GRCh38
NC_000023.10:g.595377G>A , CM000685.1:g.595377G>A GRCh37
NC_000023.9:g.515377G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000686671.1:c.302G>A MANE Select ENSP00000508521.1:p.Arg101His
ENST00000334060.8:c.302G>A ENSP00000335505.3:p.Arg101His
ENST00000381575.6:c.302G>A ENSP00000370987.1:p.Arg101His
ENST00000381578.6:c.302G>A ENSP00000370990.1:p.Arg101His
ENST00000554971.6:c.302G>A ENSP00000452016.1:p.Arg101His
Search 100 bp 5'
Search 100 bp 3'