Canonical Allele Identifier: CA372448652

Gene: NAPRT

Linked Data

• MyVariant Identifiers: chr8:g.144657069A>C (hg19) ; chr8:g.143574899A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574899A>C , CM000670.2:g.143574899A>C	GRCh38
NC_000008.10:g.144657069A>C , CM000670.1:g.144657069A>C	GRCh37
NC_000008.9:g.144728212A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1556T>G MANE Select	ENSP00000401508.2:p.Val519Gly
ENST00000340490.7:c.1641T>G	ENSP00000341136.3:p.Gly547=
ENST00000426292.7:c.1517T>G	ENSP00000390949.3:p.Val506Gly
ENST00000435154.7:c.*265T>G	ENSP00000405670.3:n.*265T>G
ENST00000449291.6:c.1556T>G	ENSP00000401508.2:p.Val519Gly
ENST00000460623.5:c.580T>G
ENST00000464332.5:n.1100T>G
ENST00000498076.5:n.335T>G
ENST00000529179.1:n.340T>G
NM_001286829.1:c.1517T>G	NP_001273758.1:p.Val506Gly
NM_145201.5:c.1556T>G	NP_660202.3:p.Val519Gly
XM_011517377.1:c.1293T>G	XP_011515679.1:p.Gly431=
NM_001363145.1:c.1475T>G	NP_001350074.1:p.Val492Gly
NM_001363146.1:c.872T>G	NP_001350075.1:p.Val291Gly
XM_017013975.2:c.1860T>G	XP_016869464.1:p.Gly620=
XM_017013976.2:c.1775T>G	XP_016869465.1:p.Val592Gly
XM_017013977.2:c.1560T>G	XP_016869466.1:p.Gly520=
XM_017013978.2:c.1512T>G	XP_016869467.1:p.Gly504=
XM_017013979.2:c.957T>G	XP_016869468.1:p.Gly319=
XM_024447332.1:c.930T>G	XP_024303100.1:p.Gly310=
XM_024447333.1:c.876T>G	XP_024303101.1:p.Gly292=
NM_145201.6:c.1556T>G MANE Select	NP_660202.3:p.Val519Gly
NM_001286829.2:c.1517T>G	NP_001273758.1:p.Val506Gly