Canonical Allele Identifier: CA506053403

Gene: COMP

Linked Data

• gnomAD v4: 19-18789265-G-T
• MyVariant Identifiers: chr19:g.18900074G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789265G>T , CM000681.2:g.18789265G>T	GRCh38
NC_000019.9:g.18900074G>T , CM000681.1:g.18900074G>T	GRCh37
NC_000019.8:g.18761074G>T	NCBI36
NG_007070.1:g.7041C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.423C>A MANE Select	ENSP00000222271.2:p.Arg141=
ENST00000222271.6:c.423C>A	ENSP00000222271.2:p.Arg141=
ENST00000425807.1:c.391-373C>A	ENSP00000403792.1:n.391-373C>A
ENST00000542601.6:c.324C>A	ENSP00000439156.2:p.Arg108=
NM_000095.2:c.423C>A	NP_000086.2:p.Arg141=
NM_000095.3:c.423C>A MANE Select	NP_000086.2:p.Arg141=