Canonical Allele Identifier: CA404882508
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785711C>T , CM000681.2:g.18785711C>T GRCh38
NC_000019.9:g.18896521C>T , CM000681.1:g.18896521C>T GRCh37
NC_000019.8:g.18757521C>T NCBI36
NG_007070.1:g.10594G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1630G>A MANE Select ENSP00000222271.2:p.Asp544Asn
ENST00000222271.6:c.1630G>A ENSP00000222271.2:p.Asp544Asn
ENST00000425807.1:c.1471G>A ENSP00000403792.1:p.Asp491Asn
ENST00000542601.6:c.1531G>A ENSP00000439156.2:p.Asp511Asn
NM_000095.2:c.1630G>A NP_000086.2:p.Asp544Asn
NM_000095.3:c.1630G>A MANE Select NP_000086.2:p.Asp544Asn