Canonical Allele Identifier: CA2692951754

Gene: SHOX

Linked Data

• gnomAD v4: X-640881-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.640881G>T , CM000685.2:g.640881G>T	GRCh38
NC_000023.10:g.601616G>T , CM000685.1:g.601616G>T	GRCh37
NC_000023.9:g.521616G>T	NCBI36

Transcript Alleles

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