Canonical Allele Identifier: CA372449364

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575084-G-A
• MyVariant Identifiers: chr8:g.144657254G>A (hg19) ; chr8:g.143575084G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575084G>A , CM000670.2:g.143575084G>A	GRCh38
NC_000008.10:g.144657254G>A , CM000670.1:g.144657254G>A	GRCh37
NC_000008.9:g.144728397G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1456C>T MANE Select	ENSP00000401508.2:p.Pro486Ser
ENST00000340490.7:c.1456C>T	ENSP00000341136.3:p.Pro486Ser
ENST00000426292.7:c.1417C>T	ENSP00000390949.3:p.Pro473Ser
ENST00000435154.7:c.*80C>T	ENSP00000405670.3:n.*80C>T
ENST00000449291.6:c.1456C>T	ENSP00000401508.2:p.Pro486Ser
ENST00000460623.5:c.395C>T
ENST00000464332.5:n.1000C>T
ENST00000498076.5:n.235C>T
ENST00000529179.1:n.240C>T
NM_001286829.1:c.1417C>T	NP_001273758.1:p.Pro473Ser
NM_145201.5:c.1456C>T	NP_660202.3:p.Pro486Ser
XM_011517377.1:c.1292-184C>T	XP_011515679.1:n.1292-184C>T
NM_001363145.1:c.1375C>T	NP_001350074.1:p.Pro459Ser
NM_001363146.1:c.772C>T	NP_001350075.1:p.Pro258Ser
XM_017013975.2:c.1675C>T	XP_016869464.1:p.Pro559Ser
XM_017013976.2:c.1675C>T	XP_016869465.1:p.Pro559Ser
XM_017013977.2:c.1375C>T	XP_016869466.1:p.Pro459Ser
XM_017013978.2:c.1511-184C>T	XP_016869467.1:n.1511-184C>T
XM_017013979.2:c.772C>T	XP_016869468.1:p.Pro258Ser
XM_024447332.1:c.929-184C>T	XP_024303100.1:n.929-184C>T
XM_024447333.1:c.691C>T	XP_024303101.1:p.Pro231Ser
NM_145201.6:c.1456C>T MANE Select	NP_660202.3:p.Pro486Ser
NM_001286829.2:c.1417C>T	NP_001273758.1:p.Pro473Ser