Canonical Allele Identifier: CA584552842
Gene: COLEC10 HGNC NCBI

Linked Data

dbSNP Id: rs1309920555
gnomAD v2: 8-119972742-G-A
gnomAD v3: 8-118960503-G-A
gnomAD v4: 8-118960503-G-A
MyVariant Identifiers: chr8:g.119972742G>A (hg19) chr8:g.118960503G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118960503G>A , CM000670.2:g.118960503G>A GRCh38
NC_000008.10:g.119972742G>A , CM000670.1:g.119972742G>A GRCh37
NC_000008.9:g.120041923G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_005250756.2:c.-60+8125G>A XP_005250813.1:n.-60+8125G>A
NM_001324095.1:c.-324+8125G>A NP_001311024.1:n.-324+8125G>A
XM_005250756.3:c.-60+8125G>A XP_005250813.1:n.-60+8125G>A
NM_001324095.2:c.-324+8125G>A NP_001311024.1:n.-324+8125G>A
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