Canonical Allele Identifier: CA2692951817

Gene: SHOX

Linked Data

• gnomAD v4: X-640969-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.640969C>A , CM000685.2:g.640969C>A	GRCh38
NC_000023.10:g.601704C>A , CM000685.1:g.601704C>A	GRCh37
NC_000023.9:g.521704C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000686671.1:c.545-30C>A MANE Select	ENSP00000508521.1:n.545-30C>A
ENST00000334060.8:c.545-30C>A	ENSP00000335505.3:n.545-30C>A
ENST00000381575.6:c.545-30C>A	ENSP00000370987.1:n.545-30C>A
ENST00000381578.6:c.545-30C>A	ENSP00000370990.1:n.545-30C>A
ENST00000554971.6:c.545-30C>A	ENSP00000452016.1:n.545-30C>A