Canonical Allele Identifier: CA9316721
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs201389713
ExAC: 19:18900044 G / A
gnomAD v2: 19-18900044-G-A
gnomAD v3: 19-18789235-G-A
gnomAD v4: 19-18789235-G-A
MyVariant Identifiers: chr19:g.18900044G>A (hg19) chr19:g.18789235G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18789235G>A , CM000681.2:g.18789235G>A GRCh38
NC_000019.9:g.18900044G>A , CM000681.1:g.18900044G>A GRCh37
NC_000019.8:g.18761044G>A NCBI36
NG_007070.1:g.7071C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.453C>T MANE Select ENSP00000222271.2:p.Cys151=
ENST00000222271.6:c.453C>T ENSP00000222271.2:p.Cys151=
ENST00000425807.1:c.391-343C>T ENSP00000403792.1:n.391-343C>T
ENST00000542601.6:c.354C>T ENSP00000439156.2:p.Cys118=
NM_000095.2:c.453C>T NP_000086.2:p.Cys151=
NM_000095.3:c.453C>T MANE Select NP_000086.2:p.Cys151=
Search 100 bp 5'
Search 100 bp 3'