Canonical Allele Identifier: CA412231794
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs1482023376
gnomAD v2: X-601754-A-T
gnomAD v3: X-641019-A-T
gnomAD v4: X-641019-A-T
MyVariant Identifiers: chrX:g.601754A>T (hg19) chrX:g.641019A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.641019A>T , CM000685.2:g.641019A>T GRCh38
NC_000023.10:g.601754A>T , CM000685.1:g.601754A>T GRCh37
NC_000023.9:g.521754A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.565A>T MANE Select ENSP00000508521.1:p.Asn189Tyr
ENST00000334060.8:c.565A>T ENSP00000335505.3:p.Asn189Tyr
ENST00000381575.6:c.565A>T ENSP00000370987.1:p.Asn189Tyr
ENST00000381578.6:c.565A>T ENSP00000370990.1:p.Asn189Tyr
ENST00000554971.6:c.565A>T ENSP00000452016.1:p.Asn189Tyr
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