Canonical Allele Identifier: CA2579539662

Gene: SHOX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.641173T>A , CM000685.2:g.641173T>A	GRCh38
NC_000023.10:g.601908T>A , CM000685.1:g.601908T>A	GRCh37
NC_000023.9:g.521908T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.633+86T>A MANE Select	ENSP00000508521.1:n.633+86T>A
ENST00000334060.8:c.633+86T>A	ENSP00000335505.3:n.633+86T>A
ENST00000381575.6:c.633+86T>A	ENSP00000370987.1:n.633+86T>A
ENST00000381578.6:c.633+86T>A	ENSP00000370990.1:n.633+86T>A
ENST00000554971.6:c.633+86T>A	ENSP00000452016.1:n.633+86T>A