Canonical Allele Identifier: CA9316247
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs779309769
ExAC: 19:18895739 G / A
gnomAD v2: 19-18895739-G-A
MyVariant Identifiers: chr19:g.18895739G>A (hg19) chr19:g.18784929G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784929G>A , CM000681.2:g.18784929G>A GRCh38
NC_000019.9:g.18895739G>A , CM000681.1:g.18895739G>A GRCh37
NC_000019.8:g.18756739G>A NCBI36
NG_007070.1:g.11376C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1881C>T MANE Select ENSP00000222271.2:p.Phe627=
ENST00000222271.6:c.1881C>T ENSP00000222271.2:p.Phe627=
ENST00000425807.1:c.1722C>T ENSP00000403792.1:p.Phe574=
ENST00000542601.6:c.1782C>T ENSP00000439156.2:p.Phe594=
NM_000095.2:c.1881C>T NP_000086.2:p.Phe627=
NM_000095.3:c.1881C>T MANE Select NP_000086.2:p.Phe627=
Search 100 bp 5'
Search 100 bp 3'