Canonical Allele Identifier: CA404885184
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786127C>G , CM000681.2:g.18786127C>G GRCh38
NC_000019.9:g.18896937C>G , CM000681.1:g.18896937C>G GRCh37
NC_000019.8:g.18757937C>G NCBI36
NG_007070.1:g.10178G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1327G>C MANE Select ENSP00000222271.2:p.Asp443His
ENST00000222271.6:c.1327G>C ENSP00000222271.2:p.Asp443His
ENST00000425807.1:c.1168G>C ENSP00000403792.1:p.Asp390His
ENST00000542601.6:c.1228G>C ENSP00000439156.2:p.Asp410His
ENST00000612179.1:n.577G>C
NM_000095.2:c.1327G>C NP_000086.2:p.Asp443His
NM_000095.3:c.1327G>C MANE Select NP_000086.2:p.Asp443His