Canonical Allele Identifier: CA372451302

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575495-T-C
• MyVariant Identifiers: chr8:g.144657665T>C (hg19) ; chr8:g.143575495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575495T>C , CM000670.2:g.143575495T>C	GRCh38
NC_000008.10:g.144657665T>C , CM000670.1:g.144657665T>C	GRCh37
NC_000008.9:g.144728808T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1219A>G MANE Select	ENSP00000401508.2:p.Lys407Glu
ENST00000340490.7:c.1219A>G	ENSP00000341136.3:p.Lys407Glu
ENST00000426292.7:c.1219A>G	ENSP00000390949.3:p.Lys407Glu
ENST00000435154.7:c.1219A>G	ENSP00000405670.3:p.Lys407Glu
ENST00000449291.6:c.1219A>G	ENSP00000401508.2:p.Lys407Glu
ENST00000460623.5:c.197A>G
ENST00000464332.5:n.763A>G
ENST00000525583.5:c.1003A>G
NM_001286829.1:c.1219A>G	NP_001273758.1:p.Lys407Glu
NM_145201.5:c.1219A>G	NP_660202.3:p.Lys407Glu
XM_011517377.1:c.1219A>G	XP_011515679.1:p.Lys407Glu
NM_001363145.1:c.1138A>G	NP_001350074.1:p.Lys380Glu
NM_001363146.1:c.535A>G	NP_001350075.1:p.Lys179Glu
XM_017013975.2:c.1438A>G	XP_016869464.1:p.Lys480Glu
XM_017013976.2:c.1438A>G	XP_016869465.1:p.Lys480Glu
XM_017013977.2:c.1138A>G	XP_016869466.1:p.Lys380Glu
XM_017013978.2:c.1438A>G	XP_016869467.1:p.Lys480Glu
XM_017013979.2:c.535A>G	XP_016869468.1:p.Lys179Glu
XM_024447332.1:c.856A>G	XP_024303100.1:p.Lys286Glu
XM_024447333.1:c.454A>G	XP_024303101.1:p.Lys152Glu
NM_145201.6:c.1219A>G MANE Select	NP_660202.3:p.Lys407Glu
NM_001286829.2:c.1219A>G	NP_001273758.1:p.Lys407Glu