Canonical Allele Identifier: CA2688942901

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574936-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574936T>G , CM000670.2:g.143574936T>G	GRCh38
NC_000008.10:g.144657106T>G , CM000670.1:g.144657106T>G	GRCh37
NC_000008.9:g.144728249T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-36A>C MANE Select	ENSP00000401508.2:n.1555-36A>C
ENST00000340490.7:c.1604A>C	ENSP00000341136.3:p.His535Pro
ENST00000426292.7:c.1516-36A>C	ENSP00000390949.3:n.1516-36A>C
ENST00000435154.7:c.*228A>C	ENSP00000405670.3:n.*228A>C
ENST00000449291.6:c.1555-36A>C	ENSP00000401508.2:n.1555-36A>C
ENST00000460623.5:c.543A>C
ENST00000464332.5:n.1099-36A>C
ENST00000498076.5:n.334-36A>C
ENST00000529179.1:n.339-36A>C
NM_001286829.1:c.1516-36A>C	NP_001273758.1:n.1516-36A>C
NM_145201.5:c.1555-36A>C	NP_660202.3:n.1555-36A>C
XM_011517377.1:c.1292-36A>C	XP_011515679.1:n.1292-36A>C
NM_001363145.1:c.1474-36A>C	NP_001350074.1:n.1474-36A>C
NM_001363146.1:c.871-36A>C	NP_001350075.1:n.871-36A>C
XM_017013975.2:c.1823A>C	XP_016869464.1:p.His608Pro
XM_017013976.2:c.1774-36A>C	XP_016869465.1:n.1774-36A>C
XM_017013977.2:c.1523A>C	XP_016869466.1:p.His508Pro
XM_017013978.2:c.1511-36A>C	XP_016869467.1:n.1511-36A>C
XM_017013979.2:c.920A>C	XP_016869468.1:p.His307Pro
XM_024447332.1:c.929-36A>C	XP_024303100.1:n.929-36A>C
XM_024447333.1:c.839A>C	XP_024303101.1:p.His280Pro
NM_145201.6:c.1555-36A>C MANE Select	NP_660202.3:n.1555-36A>C
NM_001286829.2:c.1516-36A>C	NP_001273758.1:n.1516-36A>C