Canonical Allele Identifier: CA9316393
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs749463139

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785919G>A , CM000681.2:g.18785919G>A GRCh38
NC_000019.9:g.18896729G>A , CM000681.1:g.18896729G>A GRCh37
NC_000019.8:g.18757729G>A NCBI36
NG_007070.1:g.10386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1489+46C>T MANE Select ENSP00000222271.2:n.1489+46C>T
ENST00000222271.6:c.1489+46C>T ENSP00000222271.2:n.1489+46C>T
ENST00000425807.1:c.1330+46C>T ENSP00000403792.1:n.1330+46C>T
ENST00000542601.6:c.1390+46C>T ENSP00000439156.2:n.1390+46C>T
NM_000095.2:c.1489+46C>T NP_000086.2:n.1489+46C>T
NM_000095.3:c.1489+46C>T MANE Select NP_000086.2:n.1489+46C>T