Canonical Allele Identifier: CA783972658
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1328163058
gnomAD v4: 19-18785921-C-T
MyVariant Identifiers: chr19:g.18896731C>T (hg19) chr19:g.18785921C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785921C>T , CM000681.2:g.18785921C>T GRCh38
NC_000019.9:g.18896731C>T , CM000681.1:g.18896731C>T GRCh37
NC_000019.8:g.18757731C>T NCBI36
NG_007070.1:g.10384G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1489+44G>A MANE Select ENSP00000222271.2:n.1489+44G>A
ENST00000222271.6:c.1489+44G>A ENSP00000222271.2:n.1489+44G>A
ENST00000425807.1:c.1330+44G>A ENSP00000403792.1:n.1330+44G>A
ENST00000542601.6:c.1390+44G>A ENSP00000439156.2:n.1390+44G>A
NM_000095.2:c.1489+44G>A NP_000086.2:n.1489+44G>A
NM_000095.3:c.1489+44G>A MANE Select NP_000086.2:n.1489+44G>A
Search 100 bp 5'
Search 100 bp 3'