Canonical Allele Identifier: CA306256293
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs527522148
gnomAD v2: 19-18898077-T-C
gnomAD v3: 19-18787268-T-C
gnomAD v4: 19-18787268-T-C
MyVariant Identifiers: chr19:g.18898077T>C (hg19) chr19:g.18787268T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787268T>C , CM000681.2:g.18787268T>C GRCh38
NC_000019.9:g.18898077T>C , CM000681.1:g.18898077T>C GRCh37
NC_000019.8:g.18759077T>C NCBI36
NG_007070.1:g.9038A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1135+223A>G MANE Select ENSP00000222271.2:n.1135+223A>G
ENST00000222271.6:c.1135+223A>G ENSP00000222271.2:n.1135+223A>G
ENST00000425807.1:c.976+223A>G ENSP00000403792.1:n.976+223A>G
ENST00000542601.6:c.1036+223A>G ENSP00000439156.2:n.1036+223A>G
NM_000095.2:c.1135+223A>G NP_000086.2:n.1135+223A>G
NM_000095.3:c.1135+223A>G MANE Select NP_000086.2:n.1135+223A>G
Search 100 bp 5'
Search 100 bp 3'