Canonical Allele Identifier: CA412231779

Gene: SHOX

Linked Data

• MyVariant Identifiers: chrX:g.601746G>C (hg19) ; chrX:g.641011G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.641011G>C , CM000685.2:g.641011G>C	GRCh38
NC_000023.10:g.601746G>C , CM000685.1:g.601746G>C	GRCh37
NC_000023.9:g.521746G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.557G>C MANE Select	ENSP00000508521.1:p.Gly186Ala
ENST00000334060.8:c.557G>C	ENSP00000335505.3:p.Gly186Ala
ENST00000381575.6:c.557G>C	ENSP00000370987.1:p.Gly186Ala
ENST00000381578.6:c.557G>C	ENSP00000370990.1:p.Gly186Ala
ENST00000554971.6:c.557G>C	ENSP00000452016.1:p.Gly186Ala