Canonical Allele Identifier: CA412231565
Gene: SHOX HGNC NCBI

Linked Data

gnomAD v4: X-634812-G-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.472G>C MANE Select ENSP00000508521.1:p.Glu158Gln
ENST00000334060.8:c.472G>C ENSP00000335505.3:p.Glu158Gln
ENST00000381575.6:c.472G>C ENSP00000370987.1:p.Glu158Gln
ENST00000381578.6:c.472G>C ENSP00000370990.1:p.Glu158Gln
ENST00000554971.6:c.472G>C ENSP00000452016.1:p.Glu158Gln