Canonical Allele Identifier: CA404896804
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789296C>G , CM000681.2:g.18789296C>G GRCh38
NC_000019.9:g.18900105C>G , CM000681.1:g.18900105C>G GRCh37
NC_000019.8:g.18761105C>G NCBI36
NG_007070.1:g.7010G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.392G>C MANE Select ENSP00000222271.2:p.Cys131Ser
ENST00000222271.6:c.392G>C ENSP00000222271.2:p.Cys131Ser
ENST00000425807.1:c.391-404G>C ENSP00000403792.1:n.391-404G>C
ENST00000542601.6:c.293G>C ENSP00000439156.2:p.Cys98Ser
NM_000095.2:c.392G>C NP_000086.2:p.Cys131Ser
NM_000095.3:c.392G>C MANE Select NP_000086.2:p.Cys131Ser