Canonical Allele Identifier: CA404883587
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785818A>C , CM000681.2:g.18785818A>C GRCh38
NC_000019.9:g.18896628A>C , CM000681.1:g.18896628A>C GRCh37
NC_000019.8:g.18757628A>C NCBI36
NG_007070.1:g.10487T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1523T>G MANE Select ENSP00000222271.2:p.Phe508Cys
ENST00000222271.6:c.1523T>G ENSP00000222271.2:p.Phe508Cys
ENST00000425807.1:c.1364T>G ENSP00000403792.1:p.Phe455Cys
ENST00000542601.6:c.1424T>G ENSP00000439156.2:p.Phe475Cys
NM_000095.2:c.1523T>G NP_000086.2:p.Phe508Cys
NM_000095.3:c.1523T>G MANE Select NP_000086.2:p.Phe508Cys