Canonical Allele Identifier: CA404884108
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785974C>A , CM000681.2:g.18785974C>A GRCh38
NC_000019.9:g.18896784C>A , CM000681.1:g.18896784C>A GRCh37
NC_000019.8:g.18757784C>A NCBI36
NG_007070.1:g.10331G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1480G>T MANE Select ENSP00000222271.2:p.Asp494Tyr
ENST00000222271.6:c.1480G>T ENSP00000222271.2:p.Asp494Tyr
ENST00000425807.1:c.1321G>T ENSP00000403792.1:p.Asp441Tyr
ENST00000542601.6:c.1381G>T ENSP00000439156.2:p.Asp461Tyr
NM_000095.2:c.1480G>T NP_000086.2:p.Asp494Tyr
NM_000095.3:c.1480G>T MANE Select NP_000086.2:p.Asp494Tyr