Canonical Allele Identifier: CA404883017
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785751G>C , CM000681.2:g.18785751G>C GRCh38
NC_000019.9:g.18896561G>C , CM000681.1:g.18896561G>C GRCh37
NC_000019.8:g.18757561G>C NCBI36
NG_007070.1:g.10554C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1590C>G MANE Select ENSP00000222271.2:p.Asp530Glu
ENST00000222271.6:c.1590C>G ENSP00000222271.2:p.Asp530Glu
ENST00000425807.1:c.1431C>G ENSP00000403792.1:p.Asp477Glu
ENST00000542601.6:c.1491C>G ENSP00000439156.2:p.Asp497Glu
NM_000095.2:c.1590C>G NP_000086.2:p.Asp530Glu
NM_000095.3:c.1590C>G MANE Select NP_000086.2:p.Asp530Glu