Canonical Allele Identifier: CA386315603

Gene: NT5DC3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.103787491T>C , CM000674.2:g.103787491T>C	GRCh38
NC_000012.11:g.104181269T>C , CM000674.1:g.104181269T>C	GRCh37
NC_000012.10:g.102705399T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001031701.3:c.1138A>G MANE Select	NP_001026871.1:p.Arg380Gly
ENST00000392876.8:c.1138A>G MANE Select	ENSP00000376615.3:p.Arg380Gly
NM_001031701.2:c.1138A>G	NP_001026871.1:p.Arg380Gly
ENST00000392876.7:c.1138A>G	ENSP00000376615.3:p.Arg380Gly
ENST00000415849.1:c.284A>G
ENST00000474268.1:n.257A>G
XM_011538476.1:c.697A>G	XP_011536778.1:p.Arg233Gly
XM_011538476.2:c.697A>G	XP_011536778.1:p.Arg233Gly
XR_001748756.1:n.1194A>G
XR_001748757.1:n.1206A>G
XR_001748758.1:n.1206A>G
XR_001748759.1:n.1213A>G
XR_001748760.2:n.1160A>G
XR_944574.1:n.1216A>G
XR_944574.2:n.1194A>G
XR_944575.1:n.1216A>G
XR_944576.1:n.1216A>G
XR_944577.1:n.1216A>G
XR_944578.1:n.1216A>G
XR_944579.1:n.1223A>G
XR_944580.1:n.1223A>G
XR_944580.2:n.1213A>G
XR_944581.1:n.1141A>G
XR_944581.2:n.1133A>G
XR_944582.1:n.1141A>G
XR_944582.2:n.1134A>G
XR_944583.1:n.1166A>G