Canonical Allele Identifier: CA9316449
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs765963605
ExAC: 19:18896990 G / T
gnomAD v2: 19-18896990-G-T
gnomAD v3: 19-18786180-G-T
gnomAD v4: 19-18786180-G-T
MyVariant Identifiers: chr19:g.18896990G>T (hg19) chr19:g.18786180G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786180G>T , CM000681.2:g.18786180G>T GRCh38
NC_000019.9:g.18896990G>T , CM000681.1:g.18896990G>T GRCh37
NC_000019.8:g.18757990G>T NCBI36
NG_007070.1:g.10125C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1308-34C>A MANE Select ENSP00000222271.2:n.1308-34C>A
ENST00000222271.6:c.1308-34C>A ENSP00000222271.2:n.1308-34C>A
ENST00000425807.1:c.1149-34C>A ENSP00000403792.1:n.1149-34C>A
ENST00000542601.6:c.1209-34C>A ENSP00000439156.2:n.1209-34C>A
ENST00000612179.1:n.558-34C>A
NM_000095.2:c.1308-34C>A NP_000086.2:n.1308-34C>A
NM_000095.3:c.1308-34C>A MANE Select NP_000086.2:n.1308-34C>A
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