Canonical Allele Identifier: CA506117483
Gene: COMP HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.18896621T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785811T>C , CM000681.2:g.18785811T>C GRCh38
NC_000019.9:g.18896621T>C , CM000681.1:g.18896621T>C GRCh37
NC_000019.8:g.18757621T>C NCBI36
NG_007070.1:g.10494A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1530A>G MANE Select ENSP00000222271.2:p.Ala510=
ENST00000222271.6:c.1530A>G ENSP00000222271.2:p.Ala510=
ENST00000425807.1:c.1371A>G ENSP00000403792.1:p.Ala457=
ENST00000542601.6:c.1431A>G ENSP00000439156.2:p.Ala477=
NM_000095.2:c.1530A>G NP_000086.2:p.Ala510=
NM_000095.3:c.1530A>G MANE Select NP_000086.2:p.Ala510=