Canonical Allele Identifier: CA404878046
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784951G>C , CM000681.2:g.18784951G>C GRCh38
NC_000019.9:g.18895761G>C , CM000681.1:g.18895761G>C GRCh37
NC_000019.8:g.18756761G>C NCBI36
NG_007070.1:g.11354C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1859C>G MANE Select ENSP00000222271.2:p.Thr620Arg
ENST00000222271.6:c.1859C>G ENSP00000222271.2:p.Thr620Arg
ENST00000425807.1:c.1700C>G ENSP00000403792.1:p.Thr567Arg
ENST00000542601.6:c.1760C>G ENSP00000439156.2:p.Thr587Arg
NM_000095.2:c.1859C>G NP_000086.2:p.Thr620Arg
NM_000095.3:c.1859C>G MANE Select NP_000086.2:p.Thr620Arg