Canonical Allele Identifier: CA404875054
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18783135T>A , CM000681.2:g.18783135T>A GRCh38
NC_000019.9:g.18893945T>A , CM000681.1:g.18893945T>A GRCh37
NC_000019.8:g.18754945T>A NCBI36
NG_007070.1:g.13170A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.2146A>T MANE Select ENSP00000222271.2:p.Thr716Ser
ENST00000222271.6:c.2146A>T ENSP00000222271.2:p.Thr716Ser
ENST00000425807.1:c.1987A>T ENSP00000403792.1:p.Thr663Ser
ENST00000542601.6:c.2047A>T ENSP00000439156.2:p.Thr683Ser
NM_000095.2:c.2146A>T NP_000086.2:p.Thr716Ser
NM_000095.3:c.2146A>T MANE Select NP_000086.2:p.Thr716Ser