Canonical Allele Identifier: CA404888158
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787554C>T , CM000681.2:g.18787554C>T GRCh38
NC_000019.9:g.18898363C>T , CM000681.1:g.18898363C>T GRCh37
NC_000019.8:g.18759363C>T NCBI36
NG_007070.1:g.8752G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1072G>A MANE Select ENSP00000222271.2:p.Asp358Asn
ENST00000222271.6:c.1072G>A ENSP00000222271.2:p.Asp358Asn
ENST00000425807.1:c.913G>A ENSP00000403792.1:p.Asp305Asn
ENST00000542601.6:c.973G>A ENSP00000439156.2:p.Asp325Asn
NM_000095.2:c.1072G>A NP_000086.2:p.Asp358Asn
NM_000095.3:c.1072G>A MANE Select NP_000086.2:p.Asp358Asn