Canonical Allele Identifier: CA372451170

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575479-G-A
• MyVariant Identifiers: chr8:g.144657649G>A (hg19) ; chr8:g.143575479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575479G>A , CM000670.2:g.143575479G>A	GRCh38
NC_000008.10:g.144657649G>A , CM000670.1:g.144657649G>A	GRCh37
NC_000008.9:g.144728792G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1235C>T MANE Select	ENSP00000401508.2:p.Pro412Leu
ENST00000340490.7:c.1235C>T	ENSP00000341136.3:p.Pro412Leu
ENST00000426292.7:c.1235C>T	ENSP00000390949.3:p.Pro412Leu
ENST00000435154.7:c.1235C>T	ENSP00000405670.3:p.Pro412Leu
ENST00000449291.6:c.1235C>T	ENSP00000401508.2:p.Pro412Leu
ENST00000460623.5:c.213C>T
ENST00000464332.5:n.779C>T
ENST00000525583.5:c.1019C>T
NM_001286829.1:c.1235C>T	NP_001273758.1:p.Pro412Leu
NM_145201.5:c.1235C>T	NP_660202.3:p.Pro412Leu
XM_011517377.1:c.1235C>T	XP_011515679.1:p.Pro412Leu
NM_001363145.1:c.1154C>T	NP_001350074.1:p.Pro385Leu
NM_001363146.1:c.551C>T	NP_001350075.1:p.Pro184Leu
XM_017013975.2:c.1454C>T	XP_016869464.1:p.Pro485Leu
XM_017013976.2:c.1454C>T	XP_016869465.1:p.Pro485Leu
XM_017013977.2:c.1154C>T	XP_016869466.1:p.Pro385Leu
XM_017013978.2:c.1454C>T	XP_016869467.1:p.Pro485Leu
XM_017013979.2:c.551C>T	XP_016869468.1:p.Pro184Leu
XM_024447332.1:c.872C>T	XP_024303100.1:p.Pro291Leu
XM_024447333.1:c.470C>T	XP_024303101.1:p.Pro157Leu
NM_145201.6:c.1235C>T MANE Select	NP_660202.3:p.Pro412Leu
NM_001286829.2:c.1235C>T	NP_001273758.1:p.Pro412Leu