Canonical Allele Identifier: CA2583623257
Gene: COMP HGNC NCBI

Linked Data

gnomAD v4: 19-18789317-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789317A>G , CM000681.2:g.18789317A>G GRCh38
NC_000019.9:g.18900126A>G , CM000681.1:g.18900126A>G GRCh37
NC_000019.8:g.18761126A>G NCBI36
NG_007070.1:g.6989T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.391-20T>C MANE Select ENSP00000222271.2:n.391-20T>C
ENST00000222271.6:c.391-20T>C ENSP00000222271.2:n.391-20T>C
ENST00000425807.1:c.391-425T>C ENSP00000403792.1:n.391-425T>C
ENST00000542601.6:c.292-20T>C ENSP00000439156.2:n.292-20T>C
NM_000095.2:c.391-20T>C NP_000086.2:n.391-20T>C
NM_000095.3:c.391-20T>C MANE Select NP_000086.2:n.391-20T>C
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