Canonical Allele Identifier: CA2326524843
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1601052011

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784845T>G , CM000681.2:g.18784845T>G GRCh38
NC_000019.9:g.18895655T>G , CM000681.1:g.18895655T>G GRCh37
NC_000019.8:g.18756655T>G NCBI36
NG_007070.1:g.11460A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1914+51A>C MANE Select ENSP00000222271.2:n.1914+51A>C
ENST00000222271.6:c.1914+51A>C ENSP00000222271.2:n.1914+51A>C
ENST00000425807.1:c.1755+51A>C ENSP00000403792.1:n.1755+51A>C
ENST00000542601.6:c.1815+51A>C ENSP00000439156.2:n.1815+51A>C
NM_000095.2:c.1914+51A>C NP_000086.2:n.1914+51A>C
NM_000095.3:c.1914+51A>C MANE Select NP_000086.2:n.1914+51A>C