Canonical Allele Identifier: CA404896502
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789250G>T , CM000681.2:g.18789250G>T GRCh38
NC_000019.9:g.18900059G>T , CM000681.1:g.18900059G>T GRCh37
NC_000019.8:g.18761059G>T NCBI36
NG_007070.1:g.7056C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.438C>A MANE Select ENSP00000222271.2:p.Ser146Arg
ENST00000222271.6:c.438C>A ENSP00000222271.2:p.Ser146Arg
ENST00000425807.1:c.391-358C>A ENSP00000403792.1:n.391-358C>A
ENST00000542601.6:c.339C>A ENSP00000439156.2:p.Ser113Arg
NM_000095.2:c.438C>A NP_000086.2:p.Ser146Arg
NM_000095.3:c.438C>A MANE Select NP_000086.2:p.Ser146Arg