Canonical Allele Identifier: CA404887822
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787512C>T , CM000681.2:g.18787512C>T GRCh38
NC_000019.9:g.18898321C>T , CM000681.1:g.18898321C>T GRCh37
NC_000019.8:g.18759321C>T NCBI36
NG_007070.1:g.8794G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1114G>A MANE Select ENSP00000222271.2:p.Asp372Asn
ENST00000222271.6:c.1114G>A ENSP00000222271.2:p.Asp372Asn
ENST00000425807.1:c.955G>A ENSP00000403792.1:p.Asp319Asn
ENST00000542601.6:c.1015G>A ENSP00000439156.2:p.Asp339Asn
NM_000095.2:c.1114G>A NP_000086.2:p.Asp372Asn
NM_000095.3:c.1114G>A MANE Select NP_000086.2:p.Asp372Asn