Canonical Allele Identifier: CA506052343
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs755456322
MyVariant Identifiers: chr19:g.18895727G>T (hg19) chr19:g.18784917G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784917G>T , CM000681.2:g.18784917G>T GRCh38
NC_000019.9:g.18895727G>T , CM000681.1:g.18895727G>T GRCh37
NC_000019.8:g.18756727G>T NCBI36
NG_007070.1:g.11388C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1893C>A MANE Select ENSP00000222271.2:p.Ala631=
ENST00000222271.6:c.1893C>A ENSP00000222271.2:p.Ala631=
ENST00000425807.1:c.1734C>A ENSP00000403792.1:p.Ala578=
ENST00000542601.6:c.1794C>A ENSP00000439156.2:p.Ala598=
NM_000095.2:c.1893C>A NP_000086.2:p.Ala631=
NM_000095.3:c.1893C>A MANE Select NP_000086.2:p.Ala631=
Search 100 bp 5'
Search 100 bp 3'