Canonical Allele Identifier: CA187547807

Gene: NAPRT

Linked Data

• dbSNP Id: rs568720796
• gnomAD v3: 8-143575450-C-A
• gnomAD v4: 8-143575450-C-A
• MyVariant Identifiers: chr8:g.144657620C>A (hg19) ; chr8:g.143575450C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575450C>A , CM000670.2:g.143575450C>A	GRCh38
NC_000008.10:g.144657620C>A , CM000670.1:g.144657620C>A	GRCh37
NC_000008.9:g.144728763C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1264G>T MANE Select	ENSP00000401508.2:p.Ala422Ser
ENST00000340490.7:c.1264G>T	ENSP00000341136.3:p.Ala422Ser
ENST00000426292.7:c.1264G>T	ENSP00000390949.3:p.Ala422Ser
ENST00000435154.7:c.1264G>T	ENSP00000405670.3:p.Ala422Ser
ENST00000449291.6:c.1264G>T	ENSP00000401508.2:p.Ala422Ser
ENST00000460623.5:c.242G>T
ENST00000464332.5:n.808G>T
ENST00000525583.5:c.1048G>T
NM_001286829.1:c.1264G>T	NP_001273758.1:p.Ala422Ser
NM_145201.5:c.1264G>T	NP_660202.3:p.Ala422Ser
XM_011517377.1:c.1264G>T	XP_011515679.1:p.Ala422Ser
NM_001363145.1:c.1183G>T	NP_001350074.1:p.Ala395Ser
NM_001363146.1:c.580G>T	NP_001350075.1:p.Ala194Ser
XM_017013975.2:c.1483G>T	XP_016869464.1:p.Ala495Ser
XM_017013976.2:c.1483G>T	XP_016869465.1:p.Ala495Ser
XM_017013977.2:c.1183G>T	XP_016869466.1:p.Ala395Ser
XM_017013978.2:c.1483G>T	XP_016869467.1:p.Ala495Ser
XM_017013979.2:c.580G>T	XP_016869468.1:p.Ala194Ser
XM_024447332.1:c.901G>T	XP_024303100.1:p.Ala301Ser
XM_024447333.1:c.499G>T	XP_024303101.1:p.Ala167Ser
NM_145201.6:c.1264G>T MANE Select	NP_660202.3:p.Ala422Ser
NM_001286829.2:c.1264G>T	NP_001273758.1:p.Ala422Ser