Canonical Allele Identifier: CA372449205

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575069-C-A
• MyVariant Identifiers: chr8:g.144657239C>A (hg19) ; chr8:g.143575069C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575069C>A , CM000670.2:g.143575069C>A	GRCh38
NC_000008.10:g.144657239C>A , CM000670.1:g.144657239C>A	GRCh37
NC_000008.9:g.144728382C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1471G>T MANE Select	ENSP00000401508.2:p.Ala491Ser
ENST00000340490.7:c.1471G>T	ENSP00000341136.3:p.Ala491Ser
ENST00000426292.7:c.1432G>T	ENSP00000390949.3:p.Ala478Ser
ENST00000435154.7:c.*95G>T	ENSP00000405670.3:n.*95G>T
ENST00000449291.6:c.1471G>T	ENSP00000401508.2:p.Ala491Ser
ENST00000460623.5:c.410G>T
ENST00000464332.5:n.1015G>T
ENST00000498076.5:n.250G>T
ENST00000529179.1:n.255G>T
NM_001286829.1:c.1432G>T	NP_001273758.1:p.Ala478Ser
NM_145201.5:c.1471G>T	NP_660202.3:p.Ala491Ser
XM_011517377.1:c.1292-169G>T	XP_011515679.1:n.1292-169G>T
NM_001363145.1:c.1390G>T	NP_001350074.1:p.Ala464Ser
NM_001363146.1:c.787G>T	NP_001350075.1:p.Ala263Ser
XM_017013975.2:c.1690G>T	XP_016869464.1:p.Ala564Ser
XM_017013976.2:c.1690G>T	XP_016869465.1:p.Ala564Ser
XM_017013977.2:c.1390G>T	XP_016869466.1:p.Ala464Ser
XM_017013978.2:c.1511-169G>T	XP_016869467.1:n.1511-169G>T
XM_017013979.2:c.787G>T	XP_016869468.1:p.Ala263Ser
XM_024447332.1:c.929-169G>T	XP_024303100.1:n.929-169G>T
XM_024447333.1:c.706G>T	XP_024303101.1:p.Ala236Ser
NM_145201.6:c.1471G>T MANE Select	NP_660202.3:p.Ala491Ser
NM_001286829.2:c.1432G>T	NP_001273758.1:p.Ala478Ser