Canonical Allele Identifier: CA2580596531
Gene: COLEC10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119039999T>A , CM000670.2:g.119039999T>A GRCh38
NC_000008.10:g.120052238T>A , CM000670.1:g.120052238T>A GRCh37
NC_000008.9:g.120121419T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521788.1:n.235+30446T>A
XM_005250756.2:c.-59-49681T>A XP_005250813.1:n.-59-49681T>A
XM_011516795.1:c.-60+1849T>A XP_011515097.1:n.-60+1849T>A
NM_001324095.1:c.-60+1849T>A NP_001311024.1:n.-60+1849T>A
XM_005250756.3:c.-59-49681T>A XP_005250813.1:n.-59-49681T>A
NM_001324095.2:c.-60+1849T>A NP_001311024.1:n.-60+1849T>A