Canonical Allele Identifier: CA404884302
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786004A>G , CM000681.2:g.18786004A>G GRCh38
NC_000019.9:g.18896814A>G , CM000681.1:g.18896814A>G GRCh37
NC_000019.8:g.18757814A>G NCBI36
NG_007070.1:g.10301T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1450T>C MANE Select ENSP00000222271.2:p.Cys484Arg
ENST00000222271.6:c.1450T>C ENSP00000222271.2:p.Cys484Arg
ENST00000425807.1:c.1291T>C ENSP00000403792.1:p.Cys431Arg
ENST00000542601.6:c.1351T>C ENSP00000439156.2:p.Cys451Arg
NM_000095.2:c.1450T>C NP_000086.2:p.Cys484Arg
NM_000095.3:c.1450T>C MANE Select NP_000086.2:p.Cys484Arg