Canonical Allele Identifier: CA506053390

Gene: COMP

Linked Data

• gnomAD v4: 19-18789241-G-A
• MyVariant Identifiers: chr19:g.18900050G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789241G>A , CM000681.2:g.18789241G>A	GRCh38
NC_000019.9:g.18900050G>A , CM000681.1:g.18900050G>A	GRCh37
NC_000019.8:g.18761050G>A	NCBI36
NG_007070.1:g.7065C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.447C>T MANE Select	ENSP00000222271.2:p.Phe149=
ENST00000222271.6:c.447C>T	ENSP00000222271.2:p.Phe149=
ENST00000425807.1:c.391-349C>T	ENSP00000403792.1:n.391-349C>T
ENST00000542601.6:c.348C>T	ENSP00000439156.2:p.Phe116=
NM_000095.2:c.447C>T	NP_000086.2:p.Phe149=
NM_000095.3:c.447C>T MANE Select	NP_000086.2:p.Phe149=