Canonical Allele Identifier: CA404877841
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784919C>T , CM000681.2:g.18784919C>T GRCh38
NC_000019.9:g.18895729C>T , CM000681.1:g.18895729C>T GRCh37
NC_000019.8:g.18756729C>T NCBI36
NG_007070.1:g.11386G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1891G>A MANE Select ENSP00000222271.2:p.Ala631Thr
ENST00000222271.6:c.1891G>A ENSP00000222271.2:p.Ala631Thr
ENST00000425807.1:c.1732G>A ENSP00000403792.1:p.Ala578Thr
ENST00000542601.6:c.1792G>A ENSP00000439156.2:p.Ala598Thr
NM_000095.2:c.1891G>A NP_000086.2:p.Ala631Thr
NM_000095.3:c.1891G>A MANE Select NP_000086.2:p.Ala631Thr