Canonical Allele Identifier: CA372449952

Gene: NAPRT

Linked Data

• dbSNP Id: rs1824348331
• gnomAD v4: 8-143575252-G-A
• MyVariant Identifiers: chr8:g.144657422G>A (hg19) ; chr8:g.143575252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575252G>A , CM000670.2:g.143575252G>A	GRCh38
NC_000008.10:g.144657422G>A , CM000670.1:g.144657422G>A	GRCh37
NC_000008.9:g.144728565G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1385C>T MANE Select	ENSP00000401508.2:p.Pro462Leu
ENST00000340490.7:c.1385C>T	ENSP00000341136.3:p.Pro462Leu
ENST00000426292.7:c.1385C>T	ENSP00000390949.3:p.Pro462Leu
ENST00000435154.7:c.1385C>T	ENSP00000405670.3:p.Pro462Leu
ENST00000449291.6:c.1385C>T	ENSP00000401508.2:p.Pro462Leu
ENST00000460623.5:c.363C>T
ENST00000464332.5:n.929C>T
ENST00000498076.5:n.164C>T
ENST00000529179.1:n.72C>T
NM_001286829.1:c.1385C>T	NP_001273758.1:p.Pro462Leu
NM_145201.5:c.1385C>T	NP_660202.3:p.Pro462Leu
XM_011517377.1:c.1291+171C>T	XP_011515679.1:n.1291+171C>T
NM_001363145.1:c.1304C>T	NP_001350074.1:p.Pro435Leu
NM_001363146.1:c.701C>T	NP_001350075.1:p.Pro234Leu
XM_017013975.2:c.1604C>T	XP_016869464.1:p.Pro535Leu
XM_017013976.2:c.1604C>T	XP_016869465.1:p.Pro535Leu
XM_017013977.2:c.1304C>T	XP_016869466.1:p.Pro435Leu
XM_017013978.2:c.1510+171C>T	XP_016869467.1:n.1510+171C>T
XM_017013979.2:c.701C>T	XP_016869468.1:p.Pro234Leu
XM_024447332.1:c.928+171C>T	XP_024303100.1:n.928+171C>T
XM_024447333.1:c.620C>T	XP_024303101.1:p.Pro207Leu
NM_145201.6:c.1385C>T MANE Select	NP_660202.3:p.Pro462Leu
NM_001286829.2:c.1385C>T	NP_001273758.1:p.Pro462Leu