Canonical Allele Identifier: CA1542188

Gene: NT5C1B NT5C1B-RDH14

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.18587055A>G , CM000664.2:g.18587055A>G	GRCh38
NC_000002.11:g.18768321A>G , CM000664.1:g.18768321A>G	GRCh37
NC_000002.10:g.18631802A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304081.9:c.120+448T>C (NT5C1B) MANE Select	ENSP00000305979.4:n.120+448T>C
ENST00000304081.8:c.120+448T>C (NT5C1B)	ENSP00000305979.4:n.120+448T>C
ENST00000359846.6:c.239T>C (NT5C1B)	ENSP00000352904.2:p.Ile80Thr
ENST00000406971.6:c.120+448T>C (NT5C1B)	ENSP00000383905.2:n.120+448T>C
ENST00000416783.1:c.239T>C (NT5C1B)	ENSP00000401656.1:p.Ile80Thr
ENST00000444297.2:c.120+448T>C (NT5C1B-RDH14)	ENSP00000412639.2:n.120+448T>C
ENST00000460052.1:n.216+448T>C (NT5C1B)
ENST00000532967.5:c.239T>C (NT5C1B-RDH14)	ENSP00000433415.1:p.Ile80Thr
NM_001002006.2:c.239T>C (NT5C1B)	NP_001002006.1:p.Ile80Thr
NM_001199086.1:c.188T>C (NT5C1B)	NP_001186015.1:p.Ile63Thr
NM_001199087.1:c.239T>C (NT5C1B)	NP_001186016.1:p.Ile80Thr
NM_001199088.1:c.239T>C (NT5C1B)	NP_001186017.1:p.Ile80Thr
NM_001199103.1:c.120+448T>C (NT5C1B-RDH14)	NP_001186032.1:n.120+448T>C
NM_001199104.1:c.239T>C (NT5C1B-RDH14)	NP_001186033.1:p.Ile80Thr
NM_033253.3:c.120+448T>C (NT5C1B)	NP_150278.2:n.120+448T>C
XR_939775.1:n.85+23029A>G
XR_939776.1:n.85+23029A>G
XR_001739308.1:n.436+23029A>G
XR_001739309.1:n.440+23029A>G
XR_001739310.1:n.434+23029A>G
XR_001739311.1:n.435+23029A>G
XR_001739312.1:n.566+23029A>G
XR_001739313.1:n.1225A>G
XR_002959371.1:n.566+23029A>G
XR_939776.2:n.433+23029A>G
NM_001002006.3:c.239T>C (NT5C1B)	NP_001002006.1:p.Ile80Thr
NM_001199086.2:c.188T>C (NT5C1B)	NP_001186015.1:p.Ile63Thr
NM_001199087.2:c.239T>C (NT5C1B)	NP_001186016.1:p.Ile80Thr
NM_001199088.2:c.239T>C (NT5C1B)	NP_001186017.1:p.Ile80Thr
NM_033253.4:c.120+448T>C (NT5C1B) MANE Select	NP_150278.2:n.120+448T>C
NM_001199103.2:c.120+448T>C (NT5C1B-RDH14)	NP_001186032.1:n.120+448T>C
NM_001199104.2:c.239T>C (NT5C1B-RDH14)	NP_001186033.1:p.Ile80Thr