Canonical Allele Identifier: CA404888230
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787563T>C , CM000681.2:g.18787563T>C GRCh38
NC_000019.9:g.18898372T>C , CM000681.1:g.18898372T>C GRCh37
NC_000019.8:g.18759372T>C NCBI36
NG_007070.1:g.8743A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1063A>G MANE Select ENSP00000222271.2:p.Lys355Glu
ENST00000222271.6:c.1063A>G ENSP00000222271.2:p.Lys355Glu
ENST00000425807.1:c.904A>G ENSP00000403792.1:p.Lys302Glu
ENST00000542601.6:c.964A>G ENSP00000439156.2:p.Lys322Glu
NM_000095.2:c.1063A>G NP_000086.2:p.Lys355Glu
NM_000095.3:c.1063A>G MANE Select NP_000086.2:p.Lys355Glu