Canonical Allele Identifier: CA412231617
Gene: SHOX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640825G>T , CM000685.2:g.640825G>T GRCh38
NC_000023.10:g.601560G>T , CM000685.1:g.601560G>T GRCh37
NC_000023.9:g.521560G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.491G>T MANE Select ENSP00000508521.1:p.Trp164Leu
ENST00000334060.8:c.491G>T ENSP00000335505.3:p.Trp164Leu
ENST00000381575.6:c.491G>T ENSP00000370987.1:p.Trp164Leu
ENST00000381578.6:c.491G>T ENSP00000370990.1:p.Trp164Leu
ENST00000554971.6:c.491G>T ENSP00000452016.1:p.Trp164Leu