Canonical Allele Identifier: CA404888058
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787544T>A , CM000681.2:g.18787544T>A GRCh38
NC_000019.9:g.18898353T>A , CM000681.1:g.18898353T>A GRCh37
NC_000019.8:g.18759353T>A NCBI36
NG_007070.1:g.8762A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1082A>T MANE Select ENSP00000222271.2:p.Asp361Val
ENST00000222271.6:c.1082A>T ENSP00000222271.2:p.Asp361Val
ENST00000425807.1:c.923A>T ENSP00000403792.1:p.Asp308Val
ENST00000542601.6:c.983A>T ENSP00000439156.2:p.Asp328Val
NM_000095.2:c.1082A>T NP_000086.2:p.Asp361Val
NM_000095.3:c.1082A>T MANE Select NP_000086.2:p.Asp361Val