Canonical Allele Identifier: CA372448471

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143574861-G-C
• MyVariant Identifiers: chr8:g.144657031G>C (hg19) ; chr8:g.143574861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574861G>C , CM000670.2:g.143574861G>C	GRCh38
NC_000008.10:g.144657031G>C , CM000670.1:g.144657031G>C	GRCh37
NC_000008.9:g.144728174G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1594C>G MANE Select	ENSP00000401508.2:p.Leu532Val
ENST00000340490.7:c.1679C>G	ENSP00000341136.3:p.Ser560Cys
ENST00000426292.7:c.1555C>G	ENSP00000390949.3:p.Leu519Val
ENST00000435154.7:c.*303C>G	ENSP00000405670.3:n.*303C>G
ENST00000449291.6:c.1594C>G	ENSP00000401508.2:p.Leu532Val
ENST00000460623.5:c.618C>G
ENST00000464332.5:n.1138C>G
ENST00000498076.5:n.373C>G
ENST00000529179.1:n.378C>G
NM_001286829.1:c.1555C>G	NP_001273758.1:p.Leu519Val
NM_145201.5:c.1594C>G	NP_660202.3:p.Leu532Val
XM_011517377.1:c.1331C>G	XP_011515679.1:p.Ser444Cys
NM_001363145.1:c.1513C>G	NP_001350074.1:p.Leu505Val
NM_001363146.1:c.910C>G	NP_001350075.1:p.Leu304Val
XM_017013975.2:c.1898C>G	XP_016869464.1:p.Ser633Cys
XM_017013976.2:c.1813C>G	XP_016869465.1:p.Leu605Val
XM_017013977.2:c.1598C>G	XP_016869466.1:p.Ser533Cys
XM_017013978.2:c.1550C>G	XP_016869467.1:p.Ser517Cys
XM_017013979.2:c.995C>G	XP_016869468.1:p.Ser332Cys
XM_024447332.1:c.968C>G	XP_024303100.1:p.Ser323Cys
XM_024447333.1:c.914C>G	XP_024303101.1:p.Ser305Cys
NM_145201.6:c.1594C>G MANE Select	NP_660202.3:p.Leu532Val
NM_001286829.2:c.1555C>G	NP_001273758.1:p.Leu519Val