Canonical Allele Identifier: CA404885300
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 2444368
ClinVar RCV Id: RCV003153166
MyVariant Identifiers: chr19:g.18896948T>C (hg19) chr19:g.18786138T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786138T>C , CM000681.2:g.18786138T>C GRCh38
NC_000019.9:g.18896948T>C , CM000681.1:g.18896948T>C GRCh37
NC_000019.8:g.18757948T>C NCBI36
NG_007070.1:g.10167A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1316A>G MANE Select ENSP00000222271.2:p.Asp439Gly
ENST00000222271.6:c.1316A>G ENSP00000222271.2:p.Asp439Gly
ENST00000425807.1:c.1157A>G ENSP00000403792.1:p.Asp386Gly
ENST00000542601.6:c.1217A>G ENSP00000439156.2:p.Asp406Gly
ENST00000612179.1:n.566A>G
NM_000095.2:c.1316A>G NP_000086.2:p.Asp439Gly
NM_000095.3:c.1316A>G MANE Select NP_000086.2:p.Asp439Gly
Search 100 bp 5'
Search 100 bp 3'