Canonical Allele Identifier: CA372449593

Gene: NAPRT

Linked Data

• dbSNP Id: rs1824342540
• gnomAD v3: 8-143575175-G-A
• gnomAD v4: 8-143575175-G-A
• MyVariant Identifiers: chr8:g.144657345G>A (hg19) ; chr8:g.143575175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575175G>A , CM000670.2:g.143575175G>A	GRCh38
NC_000008.10:g.144657345G>A , CM000670.1:g.144657345G>A	GRCh37
NC_000008.9:g.144728488G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1446+16C>T MANE Select	ENSP00000401508.2:n.1446+16C>T
ENST00000340490.7:c.1446+16C>T	ENSP00000341136.3:n.1446+16C>T
ENST00000426292.7:c.1407+55C>T	ENSP00000390949.3:n.1407+55C>T
ENST00000435154.7:c.1462C>T	ENSP00000405670.3:p.Pro488Ser
ENST00000449291.6:c.1446+16C>T	ENSP00000401508.2:n.1446+16C>T
ENST00000460623.5:c.385+55C>T
ENST00000464332.5:n.990+16C>T
ENST00000498076.5:n.225+16C>T
ENST00000529179.1:n.149C>T
NM_001286829.1:c.1407+55C>T	NP_001273758.1:n.1407+55C>T
NM_145201.5:c.1446+16C>T	NP_660202.3:n.1446+16C>T
XM_011517377.1:c.1291+248C>T	XP_011515679.1:n.1291+248C>T
NM_001363145.1:c.1365+16C>T	NP_001350074.1:n.1365+16C>T
NM_001363146.1:c.762+16C>T	NP_001350075.1:n.762+16C>T
XM_017013975.2:c.1665+16C>T	XP_016869464.1:n.1665+16C>T
XM_017013976.2:c.1665+16C>T	XP_016869465.1:n.1665+16C>T
XM_017013977.2:c.1365+16C>T	XP_016869466.1:n.1365+16C>T
XM_017013978.2:c.1510+248C>T	XP_016869467.1:n.1510+248C>T
XM_017013979.2:c.762+16C>T	XP_016869468.1:n.762+16C>T
XM_024447332.1:c.928+248C>T	XP_024303100.1:n.928+248C>T
XM_024447333.1:c.681+16C>T	XP_024303101.1:n.681+16C>T
NM_145201.6:c.1446+16C>T MANE Select	NP_660202.3:n.1446+16C>T
NM_001286829.2:c.1407+55C>T	NP_001273758.1:n.1407+55C>T