Canonical Allele Identifier: CA9146010

Gene: CD209

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7745624C>G , CM000681.2:g.7745624C>G	GRCh38
NC_000019.9:g.7810510C>G , CM000681.1:g.7810510C>G	GRCh37
NC_000019.8:g.7716510C>G	NCBI36
NG_012167.1:g.6955G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021155.4:c.642G>C MANE Select	NP_066978.1:p.Glu214Asp
ENST00000315599.12:c.642G>C MANE Select	ENSP00000315477.6:p.Glu214Asp
NM_001144893.1:c.340+170G>C	NP_001138365.1:n.340+170G>C
NM_001144893.2:c.340+170G>C	NP_001138365.1:n.340+170G>C
NM_001144894.1:c.510G>C	NP_001138366.1:p.Glu170Asp
NM_001144894.2:c.510G>C	NP_001138366.1:p.Glu170Asp
NM_001144895.1:c.472+170G>C	NP_001138367.1:n.472+170G>C
NM_001144895.2:c.472+170G>C	NP_001138367.1:n.472+170G>C
NM_001144896.1:c.570G>C	NP_001138368.1:p.Glu190Asp
NM_001144896.2:c.570G>C	NP_001138368.1:p.Glu190Asp
NM_001144897.1:c.642G>C	NP_001138369.1:p.Glu214Asp
NM_001144897.2:c.642G>C	NP_001138369.1:p.Glu214Asp
NM_001144899.1:c.265+377G>C	NP_001138371.1:n.265+377G>C
NM_001144899.2:c.265+377G>C	NP_001138371.1:n.265+377G>C
NM_021155.3:c.642G>C	NP_066978.1:p.Glu214Asp
NR_026692.1:n.809G>C
NR_026692.2:n.765G>C
ENST00000204801.12:c.510G>C	ENSP00000204801.7:p.Glu170Asp
ENST00000315591.12:c.570G>C	ENSP00000315407.7:p.Glu190Asp
ENST00000315599.11:c.642G>C	ENSP00000315477.6:p.Glu214Asp
ENST00000354397.10:c.642G>C	ENSP00000346373.5:p.Glu214Asp
ENST00000394161.9:c.218+424G>C	ENSP00000377716.4:n.218+424G>C
ENST00000394173.8:c.265+377G>C	ENSP00000377728.4:n.265+377G>C
ENST00000593660.5:c.538+32G>C	ENSP00000470530.1:n.538+32G>C
ENST00000593821.5:c.340+170G>C	ENSP00000471348.1:n.340+170G>C
ENST00000601256.1:c.570G>C	ENSP00000470658.1:p.Glu190Asp
ENST00000601951.5:c.570G>C	ENSP00000468827.1:p.Glu190Asp
ENST00000602261.5:c.472+170G>C	ENSP00000471137.1:n.472+170G>C
ENST00000678003.1:c.39G>C	ENSP00000504497.1:p.Glu13Asp
XM_005272472.3:c.334+308G>C	XP_005272529.1:n.334+308G>C
XM_005272472.4:c.334+308G>C	XP_005272529.1:n.334+308G>C