Canonical Allele Identifier: CA372449411

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575090-A-C
• MyVariant Identifiers: chr8:g.144657260A>C (hg19) ; chr8:g.143575090A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575090A>C , CM000670.2:g.143575090A>C	GRCh38
NC_000008.10:g.144657260A>C , CM000670.1:g.144657260A>C	GRCh37
NC_000008.9:g.144728403A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1450T>G MANE Select	ENSP00000401508.2:p.Cys484Gly
ENST00000340490.7:c.1450T>G	ENSP00000341136.3:p.Cys484Gly
ENST00000426292.7:c.1411T>G	ENSP00000390949.3:p.Cys471Gly
ENST00000435154.7:c.*74T>G	ENSP00000405670.3:n.*74T>G
ENST00000449291.6:c.1450T>G	ENSP00000401508.2:p.Cys484Gly
ENST00000460623.5:c.389T>G
ENST00000464332.5:n.994T>G
ENST00000498076.5:n.229T>G
ENST00000529179.1:n.234T>G
NM_001286829.1:c.1411T>G	NP_001273758.1:p.Cys471Gly
NM_145201.5:c.1450T>G	NP_660202.3:p.Cys484Gly
XM_011517377.1:c.1292-190T>G	XP_011515679.1:n.1292-190T>G
NM_001363145.1:c.1369T>G	NP_001350074.1:p.Cys457Gly
NM_001363146.1:c.766T>G	NP_001350075.1:p.Cys256Gly
XM_017013975.2:c.1669T>G	XP_016869464.1:p.Cys557Gly
XM_017013976.2:c.1669T>G	XP_016869465.1:p.Cys557Gly
XM_017013977.2:c.1369T>G	XP_016869466.1:p.Cys457Gly
XM_017013978.2:c.1511-190T>G	XP_016869467.1:n.1511-190T>G
XM_017013979.2:c.766T>G	XP_016869468.1:p.Cys256Gly
XM_024447332.1:c.929-190T>G	XP_024303100.1:n.929-190T>G
XM_024447333.1:c.685T>G	XP_024303101.1:p.Cys229Gly
NM_145201.6:c.1450T>G MANE Select	NP_660202.3:p.Cys484Gly
NM_001286829.2:c.1411T>G	NP_001273758.1:p.Cys471Gly