Canonical Allele Identifier: CA10329971
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs758570651
ExAC: X:595491 C / T
gnomAD v2: X-595491-C-T
gnomAD v4: X-634756-C-T
MyVariant Identifiers: chrX:g.595491C>T (hg19) chrX:g.634756C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634756C>T , CM000685.2:g.634756C>T GRCh38
NC_000023.10:g.595491C>T , CM000685.1:g.595491C>T GRCh37
NC_000023.9:g.515491C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.416C>T MANE Select ENSP00000508521.1:p.Thr139Ile
ENST00000334060.8:c.416C>T ENSP00000335505.3:p.Thr139Ile
ENST00000381575.6:c.416C>T ENSP00000370987.1:p.Thr139Ile
ENST00000381578.6:c.416C>T ENSP00000370990.1:p.Thr139Ile
ENST00000554971.6:c.416C>T ENSP00000452016.1:p.Thr139Ile
Search 100 bp 5'
Search 100 bp 3'