Canonical Allele Identifier: CA412231758

Gene: SHOX

Linked Data

• ClinVar Variation Id: 2498325
• ClinVar RCV Id: RCV003222543
• gnomAD v4: X-641001-G-C
• MyVariant Identifiers: chrX:g.601736G>C (hg19) ; chrX:g.641001G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.641001G>C , CM000685.2:g.641001G>C	GRCh38
NC_000023.10:g.601736G>C , CM000685.1:g.601736G>C	GRCh37
NC_000023.9:g.521736G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.547G>C MANE Select	ENSP00000508521.1:p.Val183Leu
ENST00000334060.8:c.547G>C	ENSP00000335505.3:p.Val183Leu
ENST00000381575.6:c.547G>C	ENSP00000370987.1:p.Val183Leu
ENST00000381578.6:c.547G>C	ENSP00000370990.1:p.Val183Leu
ENST00000554971.6:c.547G>C	ENSP00000452016.1:p.Val183Leu