Canonical Allele Identifier: CA640121527
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs1196204210
gnomAD v2: X-601990-C-A
gnomAD v3: X-641255-C-A
gnomAD v4: X-641255-C-A
MyVariant Identifiers: chrX:g.601990C>A (hg19) chrX:g.641255C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641255C>A , CM000685.2:g.641255C>A GRCh38
NC_000023.10:g.601990C>A , CM000685.1:g.601990C>A GRCh37
NC_000023.9:g.521990C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.633+168C>A MANE Select ENSP00000508521.1:n.633+168C>A
ENST00000334060.8:c.633+168C>A ENSP00000335505.3:n.633+168C>A
ENST00000381575.6:c.633+168C>A ENSP00000370987.1:n.633+168C>A
ENST00000381578.6:c.633+168C>A ENSP00000370990.1:n.633+168C>A
ENST00000554971.6:c.633+168C>A ENSP00000452016.1:n.633+168C>A
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