Canonical Allele Identifier: CA404888192
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787559T>G , CM000681.2:g.18787559T>G GRCh38
NC_000019.9:g.18898368T>G , CM000681.1:g.18898368T>G GRCh37
NC_000019.8:g.18759368T>G NCBI36
NG_007070.1:g.8747A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1067A>C MANE Select ENSP00000222271.2:p.Asn356Thr
ENST00000222271.6:c.1067A>C ENSP00000222271.2:p.Asn356Thr
ENST00000425807.1:c.908A>C ENSP00000403792.1:p.Asn303Thr
ENST00000542601.6:c.968A>C ENSP00000439156.2:p.Asn323Thr
NM_000095.2:c.1067A>C NP_000086.2:p.Asn356Thr
NM_000095.3:c.1067A>C MANE Select NP_000086.2:p.Asn356Thr