Canonical Allele Identifier: CA404884650
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786049C>T , CM000681.2:g.18786049C>T GRCh38
NC_000019.9:g.18896859C>T , CM000681.1:g.18896859C>T GRCh37
NC_000019.8:g.18757859C>T NCBI36
NG_007070.1:g.10256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1405G>A MANE Select ENSP00000222271.2:p.Asp469Asn
ENST00000222271.6:c.1405G>A ENSP00000222271.2:p.Asp469Asn
ENST00000425807.1:c.1246G>A ENSP00000403792.1:p.Asp416Asn
ENST00000542601.6:c.1306G>A ENSP00000439156.2:p.Asp436Asn
NM_000095.2:c.1405G>A NP_000086.2:p.Asp469Asn
NM_000095.3:c.1405G>A MANE Select NP_000086.2:p.Asp469Asn