Canonical Allele Identifier: CA404888337
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787574C>A , CM000681.2:g.18787574C>A GRCh38
NC_000019.9:g.18898383C>A , CM000681.1:g.18898383C>A GRCh37
NC_000019.8:g.18759383C>A NCBI36
NG_007070.1:g.8732G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1052G>T MANE Select ENSP00000222271.2:p.Cys351Phe
ENST00000222271.6:c.1052G>T ENSP00000222271.2:p.Cys351Phe
ENST00000425807.1:c.893G>T ENSP00000403792.1:p.Cys298Phe
ENST00000542601.6:c.953G>T ENSP00000439156.2:p.Cys318Phe
NM_000095.2:c.1052G>T NP_000086.2:p.Cys351Phe
NM_000095.3:c.1052G>T MANE Select NP_000086.2:p.Cys351Phe