Canonical Allele Identifier: CA640117897
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs374705909
gnomAD v2: X-595569-C-A
gnomAD v3: X-634834-C-A
gnomAD v4: X-634834-C-A
MyVariant Identifiers: chrX:g.595569C>A (hg19) chrX:g.634834C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634834C>A , CM000685.2:g.634834C>A GRCh38
NC_000023.10:g.595569C>A , CM000685.1:g.595569C>A GRCh37
NC_000023.9:g.515569C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.486+8C>A MANE Select ENSP00000508521.1:n.486+8C>A
ENST00000334060.8:c.486+8C>A ENSP00000335505.3:n.486+8C>A
ENST00000381575.6:c.486+8C>A ENSP00000370987.1:n.486+8C>A
ENST00000381578.6:c.486+8C>A ENSP00000370990.1:n.486+8C>A
ENST00000554971.6:c.486+8C>A ENSP00000452016.1:n.486+8C>A
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