Canonical Allele Identifier: CA2411385738

Gene: SHOX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.634736C= , CM000685.2:g.634736C=	GRCh38
NC_000023.10:g.595471C= , CM000685.1:g.595471C=	GRCh37
NC_000023.9:g.515471C=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000686671.1:c.396C= MANE Select	ENSP00000508521.1:p.Leu132=
ENST00000334060.8:c.396C=	ENSP00000335505.3:p.Leu132=
ENST00000381575.6:c.396C=	ENSP00000370987.1:p.Leu132=
ENST00000381578.6:c.396C=	ENSP00000370990.1:p.Leu132=
ENST00000554971.6:c.396C=	ENSP00000452016.1:p.Leu132=