Canonical Allele Identifier: CA506052405
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1444343827
gnomAD v2: 19-18895829-C-T
gnomAD v4: 19-18785019-C-T
MyVariant Identifiers: chr19:g.18895829C>T (hg19) chr19:g.18785019C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785019C>T , CM000681.2:g.18785019C>T GRCh38
NC_000019.9:g.18895829C>T , CM000681.1:g.18895829C>T GRCh37
NC_000019.8:g.18756829C>T NCBI36
NG_007070.1:g.11286G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1791G>A MANE Select ENSP00000222271.2:p.Ala597=
ENST00000222271.6:c.1791G>A ENSP00000222271.2:p.Ala597=
ENST00000425807.1:c.1632G>A ENSP00000403792.1:p.Ala544=
ENST00000542601.6:c.1692G>A ENSP00000439156.2:p.Ala564=
NM_000095.2:c.1791G>A NP_000086.2:p.Ala597=
NM_000095.3:c.1791G>A MANE Select NP_000086.2:p.Ala597=
Search 100 bp 5'
Search 100 bp 3'