Canonical Allele Identifier: CA9316141
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs200438524
ExAC: 19:18893845 C / T
gnomAD v2: 19-18893845-C-T
gnomAD v3: 19-18783035-C-T
gnomAD v4: 19-18783035-C-T
MyVariant Identifiers: chr19:g.18893845C>T (hg19) chr19:g.18783035C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18783035C>T , CM000681.2:g.18783035C>T GRCh38
NC_000019.9:g.18893845C>T , CM000681.1:g.18893845C>T GRCh37
NC_000019.8:g.18754845C>T NCBI36
NG_007070.1:g.13270G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.2227+19G>A MANE Select ENSP00000222271.2:n.2227+19G>A
ENST00000222271.6:c.2227+19G>A ENSP00000222271.2:n.2227+19G>A
ENST00000425807.1:c.2068+19G>A ENSP00000403792.1:n.2068+19G>A
ENST00000542601.6:c.2128+19G>A ENSP00000439156.2:n.2128+19G>A
NM_000095.2:c.2227+19G>A NP_000086.2:n.2227+19G>A
NM_000095.3:c.2227+19G>A MANE Select NP_000086.2:n.2227+19G>A
Search 100 bp 5'
Search 100 bp 3'