Canonical Allele Identifier: CA404896778
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789293T>G , CM000681.2:g.18789293T>G GRCh38
NC_000019.9:g.18900102T>G , CM000681.1:g.18900102T>G GRCh37
NC_000019.8:g.18761102T>G NCBI36
NG_007070.1:g.7013A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.395A>C MANE Select ENSP00000222271.2:p.Asn132Thr
ENST00000222271.6:c.395A>C ENSP00000222271.2:p.Asn132Thr
ENST00000425807.1:c.391-401A>C ENSP00000403792.1:n.391-401A>C
ENST00000542601.6:c.296A>C ENSP00000439156.2:p.Asn99Thr
NM_000095.2:c.395A>C NP_000086.2:p.Asn132Thr
NM_000095.3:c.395A>C MANE Select NP_000086.2:p.Asn132Thr