Canonical Allele Identifier: CA506053395

Gene: COMP

Linked Data

• dbSNP Id: rs2055192861
• gnomAD v4: 19-18789250-G-A
• MyVariant Identifiers: chr19:g.18900059G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789250G>A , CM000681.2:g.18789250G>A	GRCh38
NC_000019.9:g.18900059G>A , CM000681.1:g.18900059G>A	GRCh37
NC_000019.8:g.18761059G>A	NCBI36
NG_007070.1:g.7056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.438C>T MANE Select	ENSP00000222271.2:p.Ser146=
ENST00000222271.6:c.438C>T	ENSP00000222271.2:p.Ser146=
ENST00000425807.1:c.391-358C>T	ENSP00000403792.1:n.391-358C>T
ENST00000542601.6:c.339C>T	ENSP00000439156.2:p.Ser113=
NM_000095.2:c.438C>T	NP_000086.2:p.Ser146=
NM_000095.3:c.438C>T MANE Select	NP_000086.2:p.Ser146=