Canonical Allele Identifier: CA2411389792
Gene: SHOX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.640920G= , CM000685.2:g.640920G= GRCh38
NC_000023.10:g.601655G= , CM000685.1:g.601655G= GRCh37
NC_000023.9:g.521655G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000686671.1:c.544+42G= MANE Select ENSP00000508521.1:n.544+42G=
ENST00000334060.8:c.544+42G= ENSP00000335505.3:n.544+42G=
ENST00000381575.6:c.544+42G= ENSP00000370987.1:n.544+42G=
ENST00000381578.6:c.544+42G= ENSP00000370990.1:n.544+42G=
ENST00000554971.6:c.544+42G= ENSP00000452016.1:n.544+42G=