Canonical Allele Identifier: CA372450984

Gene: NAPRT

Linked Data

• dbSNP Id: rs1413038922
• gnomAD v2: 8-144657631-G-A
• gnomAD v4: 8-143575461-G-A
• MyVariant Identifiers: chr8:g.144657631G>A (hg19) ; chr8:g.143575461G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575461G>A , CM000670.2:g.143575461G>A	GRCh38
NC_000008.10:g.144657631G>A , CM000670.1:g.144657631G>A	GRCh37
NC_000008.9:g.144728774G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1253C>T MANE Select	ENSP00000401508.2:p.Pro418Leu
ENST00000340490.7:c.1253C>T	ENSP00000341136.3:p.Pro418Leu
ENST00000426292.7:c.1253C>T	ENSP00000390949.3:p.Pro418Leu
ENST00000435154.7:c.1253C>T	ENSP00000405670.3:p.Pro418Leu
ENST00000449291.6:c.1253C>T	ENSP00000401508.2:p.Pro418Leu
ENST00000460623.5:c.231C>T
ENST00000464332.5:n.797C>T
ENST00000525583.5:c.1037C>T
NM_001286829.1:c.1253C>T	NP_001273758.1:p.Pro418Leu
NM_145201.5:c.1253C>T	NP_660202.3:p.Pro418Leu
XM_011517377.1:c.1253C>T	XP_011515679.1:p.Pro418Leu
NM_001363145.1:c.1172C>T	NP_001350074.1:p.Pro391Leu
NM_001363146.1:c.569C>T	NP_001350075.1:p.Pro190Leu
XM_017013975.2:c.1472C>T	XP_016869464.1:p.Pro491Leu
XM_017013976.2:c.1472C>T	XP_016869465.1:p.Pro491Leu
XM_017013977.2:c.1172C>T	XP_016869466.1:p.Pro391Leu
XM_017013978.2:c.1472C>T	XP_016869467.1:p.Pro491Leu
XM_017013979.2:c.569C>T	XP_016869468.1:p.Pro190Leu
XM_024447332.1:c.890C>T	XP_024303100.1:p.Pro297Leu
XM_024447333.1:c.488C>T	XP_024303101.1:p.Pro163Leu
NM_145201.6:c.1253C>T MANE Select	NP_660202.3:p.Pro418Leu
NM_001286829.2:c.1253C>T	NP_001273758.1:p.Pro418Leu