Canonical Allele Identifier: CA325623383
Gene: SHOX HGNC NCBI

Linked Data

dbSNP Id: rs1035211991
gnomAD v2: X-601508-G-T
gnomAD v3: X-640773-G-T
gnomAD v4: X-640773-G-T
MyVariant Identifiers: chrX:g.601508G>T (hg19) chrX:g.640773G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640773G>T , CM000685.2:g.640773G>T GRCh38
NC_000023.10:g.601508G>T , CM000685.1:g.601508G>T GRCh37
NC_000023.9:g.521508G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.487-48G>T MANE Select ENSP00000508521.1:n.487-48G>T
ENST00000334060.8:c.487-48G>T ENSP00000335505.3:n.487-48G>T
ENST00000381575.6:c.487-48G>T ENSP00000370987.1:n.487-48G>T
ENST00000381578.6:c.487-48G>T ENSP00000370990.1:n.487-48G>T
ENST00000554971.6:c.487-48G>T ENSP00000452016.1:n.487-48G>T
Search 100 bp 5'
Search 100 bp 3'