Canonical Allele Identifier: CA10642483
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 328610
ClinVar RCV Id: RCV000278977 RCV000352592
dbSNP Id: rs370202476
MyVariant Identifiers: chr19:g.18895095G>T (hg19) chr19:g.18784285G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784285G>T , CM000681.2:g.18784285G>T GRCh38
NC_000019.9:g.18895095G>T , CM000681.1:g.18895095G>T GRCh37
NC_000019.8:g.18756095G>T NCBI36
NG_007070.1:g.12020C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1993C>A MANE Select ENSP00000222271.2:p.Arg665=
ENST00000222271.6:c.1993C>A ENSP00000222271.2:p.Arg665=
ENST00000425807.1:c.1834C>A ENSP00000403792.1:p.Arg612=
ENST00000542601.6:c.1894C>A ENSP00000439156.2:p.Arg632=
NM_000095.2:c.1993C>A NP_000086.2:p.Arg665=
NM_000095.3:c.1993C>A MANE Select NP_000086.2:p.Arg665=
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