Canonical Allele Identifier: CA404887753
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787505T>A , CM000681.2:g.18787505T>A GRCh38
NC_000019.9:g.18898314T>A , CM000681.1:g.18898314T>A GRCh37
NC_000019.8:g.18759314T>A NCBI36
NG_007070.1:g.8801A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.1121A>T MANE Select ENSP00000222271.2:p.Asp374Val
ENST00000222271.6:c.1121A>T ENSP00000222271.2:p.Asp374Val
ENST00000425807.1:c.962A>T ENSP00000403792.1:p.Asp321Val
ENST00000542601.6:c.1022A>T ENSP00000439156.2:p.Asp341Val
NM_000095.2:c.1121A>T NP_000086.2:p.Asp374Val
NM_000095.3:c.1121A>T MANE Select NP_000086.2:p.Asp374Val