Canonical Allele Identifier: CA4855045
Gene: COLEC10 HGNC NCBI

Linked Data

ClinVar Variation Id: 417733
dbSNP Id: rs149010496

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119067306C>T , CM000670.2:g.119067306C>T GRCh38
NC_000008.10:g.120079545C>T , CM000670.1:g.120079545C>T GRCh37
NC_000008.9:g.120148726C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000332843.3:c.25C>T MANE Select ENSP00000332723.2:p.Arg9Ter
ENST00000332843.2:c.25C>T ENSP00000332723.2:p.Arg9Ter
ENST00000521788.1:n.236-22374C>T
NM_006438.3:c.25C>T NP_006429.2:p.Arg9Ter
XM_005250756.2:c.-59-22374C>T XP_005250813.1:n.-59-22374C>T
XM_011516795.1:c.-59-22374C>T XP_011515097.1:n.-59-22374C>T
XR_242423.1:n.1109+368G>A
NM_001324095.1:c.-59-22374C>T NP_001311024.1:n.-59-22374C>T
NM_006438.4:c.25C>T NP_006429.2:p.Arg9Ter
NR_134297.1:n.1109+368G>A
XM_005250756.3:c.-59-22374C>T XP_005250813.1:n.-59-22374C>T
NM_006438.5:c.25C>T MANE Select NP_006429.2:p.Arg9Ter
NM_001324095.2:c.-59-22374C>T NP_001311024.1:n.-59-22374C>T