Canonical Allele Identifier: CA15039463

Gene: SHOX

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.631617T>C , CM000685.2:g.631617T>C	GRCh38
NC_000023.10:g.592352T>C , CM000685.1:g.592352T>C	GRCh37
NC_000023.9:g.512352T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.277+443T>C MANE Select	ENSP00000508521.1:n.277+443T>C
ENST00000334060.8:c.277+443T>C	ENSP00000335505.3:n.277+443T>C
ENST00000381575.6:c.277+443T>C	ENSP00000370987.1:n.277+443T>C
ENST00000381578.6:c.277+443T>C	ENSP00000370990.1:n.277+443T>C
ENST00000554971.6:c.277+443T>C	ENSP00000452016.1:n.277+443T>C