Canonical Allele Identifier: CA412231564
Gene: SHOX HGNC NCBI

Linked Data

gnomAD v4: X-634812-G-T
MyVariant Identifiers: chrX:g.595547G>T (hg19) chrX:g.634812G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634812G>T , CM000685.2:g.634812G>T GRCh38
NC_000023.10:g.595547G>T , CM000685.1:g.595547G>T GRCh37
NC_000023.9:g.515547G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.472G>T MANE Select ENSP00000508521.1:p.Glu158Ter
ENST00000334060.8:c.472G>T ENSP00000335505.3:p.Glu158Ter
ENST00000381575.6:c.472G>T ENSP00000370987.1:p.Glu158Ter
ENST00000381578.6:c.472G>T ENSP00000370990.1:p.Glu158Ter
ENST00000554971.6:c.472G>T ENSP00000452016.1:p.Glu158Ter
Search 100 bp 5'
Search 100 bp 3'