Canonical Allele Identifier: CA515291040
Gene: SHOX HGNC NCBI

Linked Data

gnomAD v4: X-641027-A-G
MyVariant Identifiers: chrX:g.601762A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641027A>G , CM000685.2:g.641027A>G GRCh38
NC_000023.10:g.601762A>G , CM000685.1:g.601762A>G GRCh37
NC_000023.9:g.521762A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.573A>G MANE Select ENSP00000508521.1:p.Leu191=
ENST00000334060.8:c.573A>G ENSP00000335505.3:p.Leu191=
ENST00000381575.6:c.573A>G ENSP00000370987.1:p.Leu191=
ENST00000381578.6:c.573A>G ENSP00000370990.1:p.Leu191=
ENST00000554971.6:c.573A>G ENSP00000452016.1:p.Leu191=
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