Canonical Allele Identifier: CA404896763
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs200638121
gnomAD v4: 19-18789292-G-T
MyVariant Identifiers: chr19:g.18900101G>T (hg19) chr19:g.18789292G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789292G>T , CM000681.2:g.18789292G>T GRCh38
NC_000019.9:g.18900101G>T , CM000681.1:g.18900101G>T GRCh37
NC_000019.8:g.18761101G>T NCBI36
NG_007070.1:g.7014C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.396C>A MANE Select ENSP00000222271.2:p.Asn132Lys
ENST00000222271.6:c.396C>A ENSP00000222271.2:p.Asn132Lys
ENST00000425807.1:c.391-400C>A ENSP00000403792.1:n.391-400C>A
ENST00000542601.6:c.297C>A ENSP00000439156.2:p.Asn99Lys
NM_000095.2:c.396C>A NP_000086.2:p.Asn132Lys
NM_000095.3:c.396C>A MANE Select NP_000086.2:p.Asn132Lys
Search 100 bp 5'
Search 100 bp 3'