Canonical Allele Identifier: CA2781928059
Gene: COLEC10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119000519G>A , CM000670.2:g.119000519G>A GRCh38
NC_000008.10:g.120012758G>A , CM000670.1:g.120012758G>A GRCh37
NC_000008.9:g.120081939G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521788.1:n.122+4946G>A
XM_005250756.2:c.-60+48141G>A XP_005250813.1:n.-60+48141G>A
NM_001324095.1:c.-323-36917G>A NP_001311024.1:n.-323-36917G>A
XM_005250756.3:c.-60+48141G>A XP_005250813.1:n.-60+48141G>A
NM_001324095.2:c.-323-36917G>A NP_001311024.1:n.-323-36917G>A
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