Canonical Allele Identifier: CA404896812
Gene: COMP HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.18900106A>G (hg19) chr19:g.18789297A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789297A>G , CM000681.2:g.18789297A>G GRCh38
NC_000019.9:g.18900106A>G , CM000681.1:g.18900106A>G GRCh37
NC_000019.8:g.18761106A>G NCBI36
NG_007070.1:g.7009T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.391T>C MANE Select ENSP00000222271.2:p.Cys131Arg
ENST00000222271.6:c.391T>C ENSP00000222271.2:p.Cys131Arg
ENST00000425807.1:c.391-405T>C ENSP00000403792.1:n.391-405T>C
ENST00000542601.6:c.292T>C ENSP00000439156.2:p.Cys98Arg
NM_000095.2:c.391T>C NP_000086.2:p.Cys131Arg
NM_000095.3:c.391T>C MANE Select NP_000086.2:p.Cys131Arg
Search 100 bp 5'
Search 100 bp 3'