Canonical Allele Identifier: CA9316353
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs145034923
ExAC: 19:18896563 C / T
gnomAD v2: 19-18896563-C-T
gnomAD v4: 19-18785753-C-T
COSMIC: COSM417691
MyVariant Identifiers: chr19:g.18896563C>T (hg19) chr19:g.18785753C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785753C>T , CM000681.2:g.18785753C>T GRCh38
NC_000019.9:g.18896563C>T , CM000681.1:g.18896563C>T GRCh37
NC_000019.8:g.18757563C>T NCBI36
NG_007070.1:g.10552G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1588G>A MANE Select ENSP00000222271.2:p.Asp530Asn
ENST00000222271.6:c.1588G>A ENSP00000222271.2:p.Asp530Asn
ENST00000425807.1:c.1429G>A ENSP00000403792.1:p.Asp477Asn
ENST00000542601.6:c.1489G>A ENSP00000439156.2:p.Asp497Asn
NM_000095.2:c.1588G>A NP_000086.2:p.Asp530Asn
NM_000095.3:c.1588G>A MANE Select NP_000086.2:p.Asp530Asn
Search 100 bp 5'
Search 100 bp 3'