Canonical Allele Identifier: CA404878029
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784948T>G , CM000681.2:g.18784948T>G GRCh38
NC_000019.9:g.18895758T>G , CM000681.1:g.18895758T>G GRCh37
NC_000019.8:g.18756758T>G NCBI36
NG_007070.1:g.11357A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1862A>C MANE Select ENSP00000222271.2:p.Tyr621Ser
ENST00000222271.6:c.1862A>C ENSP00000222271.2:p.Tyr621Ser
ENST00000425807.1:c.1703A>C ENSP00000403792.1:p.Tyr568Ser
ENST00000542601.6:c.1763A>C ENSP00000439156.2:p.Tyr588Ser
NM_000095.2:c.1862A>C NP_000086.2:p.Tyr621Ser
NM_000095.3:c.1862A>C MANE Select NP_000086.2:p.Tyr621Ser