Canonical Allele Identifier: CA15575282
Gene: COLEC10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118996132T>C , CM000670.2:g.118996132T>C GRCh38
NC_000008.10:g.120008371T>C , CM000670.1:g.120008371T>C GRCh37
NC_000008.9:g.120077552T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521788.1:n.122+559T>C
XM_005250756.2:c.-60+43754T>C XP_005250813.1:n.-60+43754T>C
NM_001324095.1:c.-323-41304T>C NP_001311024.1:n.-323-41304T>C
XM_005250756.3:c.-60+43754T>C XP_005250813.1:n.-60+43754T>C
NM_001324095.2:c.-323-41304T>C NP_001311024.1:n.-323-41304T>C