Canonical Allele Identifier: CA404884323
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 818215
ClinVar RCV Id: RCV001250922
dbSNP Id: rs2055164276
MyVariant Identifiers: chr19:g.18896819T>A (hg19) chr19:g.18786009T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786009T>A , CM000681.2:g.18786009T>A GRCh38
NC_000019.9:g.18896819T>A , CM000681.1:g.18896819T>A GRCh37
NC_000019.8:g.18757819T>A NCBI36
NG_007070.1:g.10296A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1445A>T MANE Select ENSP00000222271.2:p.Asp482Val
ENST00000222271.6:c.1445A>T ENSP00000222271.2:p.Asp482Val
ENST00000425807.1:c.1286A>T ENSP00000403792.1:p.Asp429Val
ENST00000542601.6:c.1346A>T ENSP00000439156.2:p.Asp449Val
NM_000095.2:c.1445A>T NP_000086.2:p.Asp482Val
NM_000095.3:c.1445A>T MANE Select NP_000086.2:p.Asp482Val
Search 100 bp 5'
Search 100 bp 3'