Canonical Allele Identifier: CA404888683
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787613T>G , CM000681.2:g.18787613T>G GRCh38
NC_000019.9:g.18898422T>G , CM000681.1:g.18898422T>G GRCh37
NC_000019.8:g.18759422T>G NCBI36
NG_007070.1:g.8693A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1013A>C MANE Select ENSP00000222271.2:p.Asn338Thr
ENST00000222271.6:c.1013A>C ENSP00000222271.2:p.Asn338Thr
ENST00000425807.1:c.854A>C ENSP00000403792.1:p.Asn285Thr
ENST00000542601.6:c.914A>C ENSP00000439156.2:p.Asn305Thr
NM_000095.2:c.1013A>C NP_000086.2:p.Asn338Thr
NM_000095.3:c.1013A>C MANE Select NP_000086.2:p.Asn338Thr