Canonical Allele Identifier: CA9146012
Community Standard Title: NM_021155.4(CD209):c.566A>T (p.Gln189Leu)
Gene: CD209 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7745700T>A , CM000681.2:g.7745700T>A GRCh38
NC_000019.9:g.7810586T>A , CM000681.1:g.7810586T>A GRCh37
NC_000019.8:g.7716586T>A NCBI36
NG_012167.1:g.6879A>T

Transcript Alleles

HGVS Amino-acid Change
NM_021155.4:c.566A>T MANE Select NP_066978.1:p.Gln189Leu
ENST00000315599.12:c.566A>T MANE Select ENSP00000315477.6:p.Gln189Leu
NM_001144893.1:c.340+94A>T NP_001138365.1:n.340+94A>T
NM_001144893.2:c.340+94A>T NP_001138365.1:n.340+94A>T
NM_001144894.1:c.434A>T NP_001138366.1:p.Gln145Leu
NM_001144894.2:c.434A>T NP_001138366.1:p.Gln145Leu
NM_001144895.1:c.472+94A>T NP_001138367.1:n.472+94A>T
NM_001144895.2:c.472+94A>T NP_001138367.1:n.472+94A>T
NM_001144896.1:c.494A>T NP_001138368.1:p.Gln165Leu
NM_001144896.2:c.494A>T NP_001138368.1:p.Gln165Leu
NM_001144897.1:c.566A>T NP_001138369.1:p.Gln189Leu
NM_001144897.2:c.566A>T NP_001138369.1:p.Gln189Leu
NM_001144899.1:c.265+301A>T NP_001138371.1:n.265+301A>T
NM_001144899.2:c.265+301A>T NP_001138371.1:n.265+301A>T
NM_021155.3:c.566A>T NP_066978.1:p.Gln189Leu
NR_026692.1:n.733A>T
NR_026692.2:n.689A>T
ENST00000204801.12:c.434A>T ENSP00000204801.7:p.Gln145Leu
ENST00000315591.12:c.494A>T ENSP00000315407.7:p.Gln165Leu
ENST00000315599.11:c.566A>T ENSP00000315477.6:p.Gln189Leu
ENST00000354397.10:c.566A>T ENSP00000346373.5:p.Gln189Leu
ENST00000394161.9:c.218+348A>T ENSP00000377716.4:n.218+348A>T
ENST00000394173.8:c.265+301A>T ENSP00000377728.4:n.265+301A>T
ENST00000593660.5:c.494A>T ENSP00000470530.1:p.Gln165Leu
ENST00000593821.5:c.340+94A>T ENSP00000471348.1:n.340+94A>T
ENST00000601256.1:c.494A>T ENSP00000470658.1:p.Gln165Leu
ENST00000601951.5:c.494A>T ENSP00000468827.1:p.Gln165Leu
ENST00000602261.5:c.472+94A>T ENSP00000471137.1:n.472+94A>T
XM_005272472.3:c.334+232A>T XP_005272529.1:n.334+232A>T
XM_005272472.4:c.334+232A>T XP_005272529.1:n.334+232A>T