Canonical Allele Identifier: CA404896542
Gene: COMP HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.18900068G>C (hg19) chr19:g.18789259G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789259G>C , CM000681.2:g.18789259G>C GRCh38
NC_000019.9:g.18900068G>C , CM000681.1:g.18900068G>C GRCh37
NC_000019.8:g.18761068G>C NCBI36
NG_007070.1:g.7047C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.429C>G MANE Select ENSP00000222271.2:p.Ile143Met
ENST00000222271.6:c.429C>G ENSP00000222271.2:p.Ile143Met
ENST00000425807.1:c.391-367C>G ENSP00000403792.1:n.391-367C>G
ENST00000542601.6:c.330C>G ENSP00000439156.2:p.Ile110Met
NM_000095.2:c.429C>G NP_000086.2:p.Ile143Met
NM_000095.3:c.429C>G MANE Select NP_000086.2:p.Ile143Met
Search 100 bp 5'
Search 100 bp 3'