Canonical Allele Identifier: CA116873

Gene: CLEC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.10118488A>C , CM000674.2:g.10118488A>C	GRCh38
NC_000012.11:g.10271087A>C , CM000674.1:g.10271087A>C	GRCh37
NC_000012.10:g.10162354A>C	NCBI36
NG_016291.1:g.16782T>G , LRG_179:g.16782T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_197947.3:c.714T>G MANE Select	NP_922938.1:p.Tyr238Ter
ENST00000304084.13:c.714T>G MANE Select	ENSP00000302569.8:p.Tyr238Ter
NM_022570.4:c.576T>G	NP_072092.2:p.Tyr192Ter
NM_022570.5:c.576T>G	NP_072092.2:p.Tyr192Ter
NM_197947.2:c.714T>G , LRG_179t1:c.714T>G	NP_922938.1:p.Tyr238Ter
NM_197948.2:c.*25T>G	NP_922939.1:n.*25T>G
NM_197948.3:c.*25T>G	NP_922939.1:n.*25T>G
NM_197949.2:c.*25T>G	NP_922940.1:n.*25T>G
NM_197949.3:c.*25T>G	NP_922940.1:n.*25T>G
NM_197950.2:c.477T>G	NP_922941.1:p.Tyr159Ter
NM_197950.3:c.477T>G	NP_922941.1:p.Tyr159Ter
NR_125336.1:n.988T>G
NR_125336.2:n.918T>G
ENST00000298523.9:c.*25T>G	ENSP00000298523.5:n.*25T>G
ENST00000304084.12:c.714T>G	ENSP00000302569.8:p.Tyr238Ter
ENST00000349926.9:c.325T>G	ENSP00000344723.5:n.325T>G
ENST00000353231.9:c.576T>G	ENSP00000266456.6:p.Tyr192Ter
ENST00000396484.6:c.477T>G	ENSP00000379743.2:p.Tyr159Ter
ENST00000465100.5:c.851T>G	ENSP00000436923.1:n.851T>G
ENST00000529761.5:c.714T>G	ENSP00000432876.1:p.Tyr238Ter
ENST00000533022.5:c.595T>G	ENSP00000431461.1:n.595T>G
ENST00000534609.5:n.2014T>G
XM_005253467.3:c.714T>G	XP_005253524.1:p.Tyr238Ter
XM_017019822.1:c.678T>G	XP_016875311.1:p.Tyr226Ter
XM_017019823.1:c.540T>G	XP_016875312.1:p.Tyr180Ter
XR_931351.1:n.158+2945A>C
XR_931351.2:n.159+2945A>C
XR_931352.1:n.158+2945A>C
XR_931352.2:n.159+2945A>C