Canonical Allele Identifier: CA404879156
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785065A>C , CM000681.2:g.18785065A>C GRCh38
NC_000019.9:g.18895875A>C , CM000681.1:g.18895875A>C GRCh37
NC_000019.8:g.18756875A>C NCBI36
NG_007070.1:g.11240T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1745T>G MANE Select ENSP00000222271.2:p.Phe582Cys
ENST00000222271.6:c.1745T>G ENSP00000222271.2:p.Phe582Cys
ENST00000425807.1:c.1586T>G ENSP00000403792.1:p.Phe529Cys
ENST00000542601.6:c.1646T>G ENSP00000439156.2:p.Phe549Cys
NM_000095.2:c.1745T>G NP_000086.2:p.Phe582Cys
NM_000095.3:c.1745T>G MANE Select NP_000086.2:p.Phe582Cys