Canonical Allele Identifier: CA404882363
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 843498
ClinVar RCV Id: RCV001046138
dbSNP Id: rs2055160733
MyVariant Identifiers: chr19:g.18896509C>G (hg19) chr19:g.18785699C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785699C>G , CM000681.2:g.18785699C>G GRCh38
NC_000019.9:g.18896509C>G , CM000681.1:g.18896509C>G GRCh37
NC_000019.8:g.18757509C>G NCBI36
NG_007070.1:g.10606G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1642G>C MANE Select ENSP00000222271.2:p.Asp548His
ENST00000222271.6:c.1642G>C ENSP00000222271.2:p.Asp548His
ENST00000425807.1:c.1483G>C ENSP00000403792.1:p.Asp495His
ENST00000542601.6:c.1543G>C ENSP00000439156.2:p.Asp515His
NM_000095.2:c.1642G>C NP_000086.2:p.Asp548His
NM_000095.3:c.1642G>C MANE Select NP_000086.2:p.Asp548His
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