Canonical Allele Identifier: CA10329944
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs761493152
ExAC: X:595376 C / T
gnomAD v2: X-595376-C-T
gnomAD v4: X-634641-C-T
MyVariant Identifiers: chrX:g.595376C>T (hg19) chrX:g.634641C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634641C>T , CM000685.2:g.634641C>T GRCh38
NC_000023.10:g.595376C>T , CM000685.1:g.595376C>T GRCh37
NC_000023.9:g.515376C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000686671.1:c.301C>T MANE Select ENSP00000508521.1:p.Arg101Cys
ENST00000334060.8:c.301C>T ENSP00000335505.3:p.Arg101Cys
ENST00000381575.6:c.301C>T ENSP00000370987.1:p.Arg101Cys
ENST00000381578.6:c.301C>T ENSP00000370990.1:p.Arg101Cys
ENST00000554971.6:c.301C>T ENSP00000452016.1:p.Arg101Cys
Search 100 bp 5'
Search 100 bp 3'