Canonical Allele Identifier: CA2718212862
Gene: COLEC10 HGNC NCBI

Linked Data

dbSNP Id: rs2130060562

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119000527A>C , CM000670.2:g.119000527A>C GRCh38
NC_000008.10:g.120012766A>C , CM000670.1:g.120012766A>C GRCh37
NC_000008.9:g.120081947A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000521788.1:n.122+4954A>C
XM_005250756.2:c.-60+48149A>C XP_005250813.1:n.-60+48149A>C
NM_001324095.1:c.-323-36909A>C NP_001311024.1:n.-323-36909A>C
XM_005250756.3:c.-60+48149A>C XP_005250813.1:n.-60+48149A>C
NM_001324095.2:c.-323-36909A>C NP_001311024.1:n.-323-36909A>C