Canonical Allele Identifier: CA632626775
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1467872481
gnomAD v2: 19-18896993-C-T
gnomAD v4: 19-18786183-C-T
MyVariant Identifiers: chr19:g.18896993C>T (hg19) chr19:g.18786183C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786183C>T , CM000681.2:g.18786183C>T GRCh38
NC_000019.9:g.18896993C>T , CM000681.1:g.18896993C>T GRCh37
NC_000019.8:g.18757993C>T NCBI36
NG_007070.1:g.10122G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1308-37G>A MANE Select ENSP00000222271.2:n.1308-37G>A
ENST00000222271.6:c.1308-37G>A ENSP00000222271.2:n.1308-37G>A
ENST00000425807.1:c.1149-37G>A ENSP00000403792.1:n.1149-37G>A
ENST00000542601.6:c.1209-37G>A ENSP00000439156.2:n.1209-37G>A
ENST00000612179.1:n.558-37G>A
NM_000095.2:c.1308-37G>A NP_000086.2:n.1308-37G>A
NM_000095.3:c.1308-37G>A MANE Select NP_000086.2:n.1308-37G>A
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