Canonical Allele Identifier: CA404888121
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787550T>C , CM000681.2:g.18787550T>C GRCh38
NC_000019.9:g.18898359T>C , CM000681.1:g.18898359T>C GRCh37
NC_000019.8:g.18759359T>C NCBI36
NG_007070.1:g.8756A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1076A>G MANE Select ENSP00000222271.2:p.Gln359Arg
ENST00000222271.6:c.1076A>G ENSP00000222271.2:p.Gln359Arg
ENST00000425807.1:c.917A>G ENSP00000403792.1:p.Gln306Arg
ENST00000542601.6:c.977A>G ENSP00000439156.2:p.Gln326Arg
NM_000095.2:c.1076A>G NP_000086.2:p.Gln359Arg
NM_000095.3:c.1076A>G MANE Select NP_000086.2:p.Gln359Arg