Canonical Allele Identifier: CA10329973
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs143360725
ExAC: X:595501 C / G
gnomAD v2: X-595501-C-G
gnomAD v3: X-634766-C-G
gnomAD v4: X-634766-C-G
MyVariant Identifiers: chrX:g.595501C>G (hg19) chrX:g.634766C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634766C>G , CM000685.2:g.634766C>G GRCh38
NC_000023.10:g.595501C>G , CM000685.1:g.595501C>G GRCh37
NC_000023.9:g.515501C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.426C>G MANE Select ENSP00000508521.1:p.Pro142=
ENST00000334060.8:c.426C>G ENSP00000335505.3:p.Pro142=
ENST00000381575.6:c.426C>G ENSP00000370987.1:p.Pro142=
ENST00000381578.6:c.426C>G ENSP00000370990.1:p.Pro142=
ENST00000554971.6:c.426C>G ENSP00000452016.1:p.Pro142=
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