Canonical Allele Identifier: CA404887890
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787520T>A , CM000681.2:g.18787520T>A GRCh38
NC_000019.9:g.18898329T>A , CM000681.1:g.18898329T>A GRCh37
NC_000019.8:g.18759329T>A NCBI36
NG_007070.1:g.8786A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1106A>T MANE Select ENSP00000222271.2:p.Asp369Val
ENST00000222271.6:c.1106A>T ENSP00000222271.2:p.Asp369Val
ENST00000425807.1:c.947A>T ENSP00000403792.1:p.Asp316Val
ENST00000542601.6:c.1007A>T ENSP00000439156.2:p.Asp336Val
NM_000095.2:c.1106A>T NP_000086.2:p.Asp369Val
NM_000095.3:c.1106A>T MANE Select NP_000086.2:p.Asp369Val