Canonical Allele Identifier: CA2411385680

Gene: SHOX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.634640G= , CM000685.2:g.634640G=	GRCh38
NC_000023.10:g.595375G= , CM000685.1:g.595375G=	GRCh37
NC_000023.9:g.515375G=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000686671.1:c.300G= MANE Select	ENSP00000508521.1:p.Lys100=
ENST00000334060.8:c.300G=	ENSP00000335505.3:p.Lys100=
ENST00000381575.6:c.300G=	ENSP00000370987.1:p.Lys100=
ENST00000381578.6:c.300G=	ENSP00000370990.1:p.Lys100=
ENST00000554971.6:c.300G=	ENSP00000452016.1:p.Lys100=