Canonical Allele Identifier: CA1541972

Gene: NT5C1B NT5C1B-RDH14

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.18584534T>C , CM000664.2:g.18584534T>C	GRCh38
NC_000002.11:g.18765800T>C , CM000664.1:g.18765800T>C	GRCh37
NC_000002.10:g.18629281T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304081.9:c.703A>G (NT5C1B) MANE Select	ENSP00000305979.4:p.Ser235Gly
ENST00000304081.8:c.703A>G (NT5C1B)	ENSP00000305979.4:p.Ser235Gly
ENST00000359846.6:c.883A>G (NT5C1B)	ENSP00000352904.2:p.Ser295Gly
ENST00000406971.6:c.*24A>G (NT5C1B)	ENSP00000383905.2:n.*24A>G
ENST00000444297.2:c.709A>G (NT5C1B-RDH14)	ENSP00000412639.2:p.Ser237Gly
ENST00000490687.1:n.1236A>G (NT5C1B)
ENST00000532967.5:c.883A>G (NT5C1B-RDH14)	ENSP00000433415.1:p.Ser295Gly
NM_001002006.2:c.883A>G (NT5C1B)	NP_001002006.1:p.Ser295Gly
NM_001199086.1:c.832A>G (NT5C1B)	NP_001186015.1:p.Ser278Gly
NM_001199087.1:c.934A>G (NT5C1B)	NP_001186016.1:p.Ser312Gly
NM_001199088.1:c.889A>G (NT5C1B)	NP_001186017.1:p.Ser297Gly
NM_001199103.1:c.709A>G (NT5C1B-RDH14)	NP_001186032.1:p.Ser237Gly
NM_001199104.1:c.883A>G (NT5C1B-RDH14)	NP_001186033.1:p.Ser295Gly
NM_033253.3:c.703A>G (NT5C1B)	NP_150278.2:p.Ser235Gly
XR_939775.1:n.85+20508T>C
XR_939776.1:n.85+20508T>C
XR_001739308.1:n.436+20508T>C
XR_001739309.1:n.440+20508T>C
XR_001739310.1:n.434+20508T>C
XR_001739311.1:n.435+20508T>C
XR_001739312.1:n.566+20508T>C
XR_001739313.1:n.429-1725T>C
XR_002959371.1:n.566+20508T>C
XR_939776.2:n.433+20508T>C
NM_001002006.3:c.883A>G (NT5C1B)	NP_001002006.1:p.Ser295Gly
NM_001199086.2:c.832A>G (NT5C1B)	NP_001186015.1:p.Ser278Gly
NM_001199087.2:c.934A>G (NT5C1B)	NP_001186016.1:p.Ser312Gly
NM_001199088.2:c.889A>G (NT5C1B)	NP_001186017.1:p.Ser297Gly
NM_033253.4:c.703A>G (NT5C1B) MANE Select	NP_150278.2:p.Ser235Gly
NM_001199103.2:c.709A>G (NT5C1B-RDH14)	NP_001186032.1:p.Ser237Gly
NM_001199104.2:c.883A>G (NT5C1B-RDH14)	NP_001186033.1:p.Ser295Gly