Canonical Allele Identifier: CA9316276
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs61741109
ExAC: 19:18895886 A / G
gnomAD v2: 19-18895886-A-G
gnomAD v4: 19-18785076-A-G
MyVariant Identifiers: chr19:g.18895886A>G (hg19) chr19:g.18785076A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785076A>G , CM000681.2:g.18785076A>G GRCh38
NC_000019.9:g.18895886A>G , CM000681.1:g.18895886A>G GRCh37
NC_000019.8:g.18756886A>G NCBI36
NG_007070.1:g.11229T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1734T>C MANE Select ENSP00000222271.2:p.Asn578=
ENST00000222271.6:c.1734T>C ENSP00000222271.2:p.Asn578=
ENST00000425807.1:c.1575T>C ENSP00000403792.1:p.Asn525=
ENST00000542601.6:c.1635T>C ENSP00000439156.2:p.Asn545=
NM_000095.2:c.1734T>C NP_000086.2:p.Asn578=
NM_000095.3:c.1734T>C MANE Select NP_000086.2:p.Asn578=
Search 100 bp 5'
Search 100 bp 3'