Canonical Allele Identifier: CA506053383
Gene: COMP HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.18900038A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789229A>C , CM000681.2:g.18789229A>C GRCh38
NC_000019.9:g.18900038A>C , CM000681.1:g.18900038A>C GRCh37
NC_000019.8:g.18761038A>C NCBI36
NG_007070.1:g.7077T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.459T>G MANE Select ENSP00000222271.2:p.Ala153=
ENST00000222271.6:c.459T>G ENSP00000222271.2:p.Ala153=
ENST00000425807.1:c.391-337T>G ENSP00000403792.1:n.391-337T>G
ENST00000542601.6:c.360T>G ENSP00000439156.2:p.Ala120=
NM_000095.2:c.459T>G NP_000086.2:p.Ala153=
NM_000095.3:c.459T>G MANE Select NP_000086.2:p.Ala153=