Canonical Allele Identifier: CA4855239
Community Standard Title: NM_006438.5(COLEC10):c.528C>G (p.Cys176Trp)
Gene: COLEC10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119105885C>G , CM000670.2:g.119105885C>G GRCh38
NC_000008.10:g.120118124C>G , CM000670.1:g.120118124C>G GRCh37
NC_000008.9:g.120187305C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006438.5:c.528C>G MANE Select NP_006429.2:p.Cys176Trp
ENST00000332843.3:c.528C>G MANE Select ENSP00000332723.2:p.Cys176Trp
NM_001324095.1:c.321C>G NP_001311024.1:p.Cys107Trp
NM_001324095.2:c.321C>G NP_001311024.1:p.Cys107Trp
NM_006438.3:c.528C>G NP_006429.2:p.Cys176Trp
NM_006438.4:c.528C>G NP_006429.2:p.Cys176Trp
ENST00000332843.2:c.528C>G ENSP00000332723.2:p.Cys176Trp
XM_005250756.2:c.321C>G XP_005250813.1:p.Cys107Trp
XM_005250756.3:c.321C>G XP_005250813.1:p.Cys107Trp
XM_011516795.1:c.321C>G XP_011515097.1:p.Cys107Trp