Canonical Allele Identifier: CA404896529
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789256G>C , CM000681.2:g.18789256G>C GRCh38
NC_000019.9:g.18900065G>C , CM000681.1:g.18900065G>C GRCh37
NC_000019.8:g.18761065G>C NCBI36
NG_007070.1:g.7050C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.432C>G MANE Select ENSP00000222271.2:p.Asn144Lys
ENST00000222271.6:c.432C>G ENSP00000222271.2:p.Asn144Lys
ENST00000425807.1:c.391-364C>G ENSP00000403792.1:n.391-364C>G
ENST00000542601.6:c.333C>G ENSP00000439156.2:p.Asn111Lys
NM_000095.2:c.432C>G NP_000086.2:p.Asn144Lys
NM_000095.3:c.432C>G MANE Select NP_000086.2:p.Asn144Lys