Canonical Allele Identifier: CA404885724
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786252T>A , CM000681.2:g.18786252T>A GRCh38
NC_000019.9:g.18897062T>A , CM000681.1:g.18897062T>A GRCh37
NC_000019.8:g.18758062T>A NCBI36
NG_007070.1:g.10053A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1294A>T MANE Select ENSP00000222271.2:p.Ser432Cys
ENST00000222271.6:c.1294A>T ENSP00000222271.2:p.Ser432Cys
ENST00000425807.1:c.1135A>T ENSP00000403792.1:p.Ser379Cys
ENST00000542601.6:c.1195A>T ENSP00000439156.2:p.Ser399Cys
ENST00000612179.1:n.544A>T
NM_000095.2:c.1294A>T NP_000086.2:p.Ser432Cys
NM_000095.3:c.1294A>T MANE Select NP_000086.2:p.Ser432Cys