Canonical Allele Identifier: CA404896785

Gene: COMP

Linked Data

• gnomAD v4: 19-18789294-T-G
• MyVariant Identifiers: chr19:g.18900103T>G (hg19) ; chr19:g.18789294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789294T>G , CM000681.2:g.18789294T>G	GRCh38
NC_000019.9:g.18900103T>G , CM000681.1:g.18900103T>G	GRCh37
NC_000019.8:g.18761103T>G	NCBI36
NG_007070.1:g.7012A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.394A>C MANE Select	ENSP00000222271.2:p.Asn132His
ENST00000222271.6:c.394A>C	ENSP00000222271.2:p.Asn132His
ENST00000425807.1:c.391-402A>C	ENSP00000403792.1:n.391-402A>C
ENST00000542601.6:c.295A>C	ENSP00000439156.2:p.Asn99His
NM_000095.2:c.394A>C	NP_000086.2:p.Asn132His
NM_000095.3:c.394A>C MANE Select	NP_000086.2:p.Asn132His