Canonical Allele Identifier: CA404882502
Gene: COMP HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.18896521C>G (hg19) chr19:g.18785711C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785711C>G , CM000681.2:g.18785711C>G GRCh38
NC_000019.9:g.18896521C>G , CM000681.1:g.18896521C>G GRCh37
NC_000019.8:g.18757521C>G NCBI36
NG_007070.1:g.10594G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1630G>C MANE Select ENSP00000222271.2:p.Asp544His
ENST00000222271.6:c.1630G>C ENSP00000222271.2:p.Asp544His
ENST00000425807.1:c.1471G>C ENSP00000403792.1:p.Asp491His
ENST00000542601.6:c.1531G>C ENSP00000439156.2:p.Asp511His
NM_000095.2:c.1630G>C NP_000086.2:p.Asp544His
NM_000095.3:c.1630G>C MANE Select NP_000086.2:p.Asp544His
Search 100 bp 5'
Search 100 bp 3'