Canonical Allele Identifier: CA9316284
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs752316049
ExAC: 19:18895929 T / C
gnomAD v2: 19-18895929-T-C
MyVariant Identifiers: chr19:g.18895929T>C (hg19) chr19:g.18785119T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785119T>C , CM000681.2:g.18785119T>C GRCh38
NC_000019.9:g.18895929T>C , CM000681.1:g.18895929T>C GRCh37
NC_000019.8:g.18756929T>C NCBI36
NG_007070.1:g.11186A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1718-27A>G MANE Select ENSP00000222271.2:n.1718-27A>G
ENST00000222271.6:c.1718-27A>G ENSP00000222271.2:n.1718-27A>G
ENST00000425807.1:c.1559-27A>G ENSP00000403792.1:n.1559-27A>G
ENST00000542601.6:c.1619-27A>G ENSP00000439156.2:n.1619-27A>G
NM_000095.2:c.1718-27A>G NP_000086.2:n.1718-27A>G
NM_000095.3:c.1718-27A>G MANE Select NP_000086.2:n.1718-27A>G
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