Canonical Allele Identifier: CA515393065
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs2052709713
gnomAD v3: X-634643-C-T
gnomAD v4: X-634643-C-T
MyVariant Identifiers: chrX:g.595378C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634643C>T , CM000685.2:g.634643C>T GRCh38
NC_000023.10:g.595378C>T , CM000685.1:g.595378C>T GRCh37
NC_000023.9:g.515378C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000686671.1:c.303C>T MANE Select ENSP00000508521.1:p.Arg101=
ENST00000334060.8:c.303C>T ENSP00000335505.3:p.Arg101=
ENST00000381575.6:c.303C>T ENSP00000370987.1:p.Arg101=
ENST00000381578.6:c.303C>T ENSP00000370990.1:p.Arg101=
ENST00000554971.6:c.303C>T ENSP00000452016.1:p.Arg101=
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