Canonical Allele Identifier: CA404896516
Gene: COMP HGNC NCBI

Linked Data

gnomAD v4: 19-18789252-T-C
MyVariant Identifiers: chr19:g.18900061T>C (hg19) chr19:g.18789252T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789252T>C , CM000681.2:g.18789252T>C GRCh38
NC_000019.9:g.18900061T>C , CM000681.1:g.18900061T>C GRCh37
NC_000019.8:g.18761061T>C NCBI36
NG_007070.1:g.7054A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.436A>G MANE Select ENSP00000222271.2:p.Ser146Gly
ENST00000222271.6:c.436A>G ENSP00000222271.2:p.Ser146Gly
ENST00000425807.1:c.391-360A>G ENSP00000403792.1:n.391-360A>G
ENST00000542601.6:c.337A>G ENSP00000439156.2:p.Ser113Gly
NM_000095.2:c.436A>G NP_000086.2:p.Ser146Gly
NM_000095.3:c.436A>G MANE Select NP_000086.2:p.Ser146Gly
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