Canonical Allele Identifier: CA372451312

Gene: NAPRT

Linked Data

• dbSNP Id: rs1824375226
• gnomAD v3: 8-143575496-C-T
• gnomAD v4: 8-143575496-C-T
• MyVariant Identifiers: chr8:g.144657666C>T (hg19) ; chr8:g.143575496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575496C>T , CM000670.2:g.143575496C>T	GRCh38
NC_000008.10:g.144657666C>T , CM000670.1:g.144657666C>T	GRCh37
NC_000008.9:g.144728809C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1218G>A MANE Select	ENSP00000401508.2:p.Met406Ile
ENST00000340490.7:c.1218G>A	ENSP00000341136.3:p.Met406Ile
ENST00000426292.7:c.1218G>A	ENSP00000390949.3:p.Met406Ile
ENST00000435154.7:c.1218G>A	ENSP00000405670.3:p.Met406Ile
ENST00000449291.6:c.1218G>A	ENSP00000401508.2:p.Met406Ile
ENST00000460623.5:c.196G>A
ENST00000464332.5:n.762G>A
ENST00000525583.5:c.1002G>A
NM_001286829.1:c.1218G>A	NP_001273758.1:p.Met406Ile
NM_145201.5:c.1218G>A	NP_660202.3:p.Met406Ile
XM_011517377.1:c.1218G>A	XP_011515679.1:p.Met406Ile
NM_001363145.1:c.1137G>A	NP_001350074.1:p.Met379Ile
NM_001363146.1:c.534G>A	NP_001350075.1:p.Met178Ile
XM_017013975.2:c.1437G>A	XP_016869464.1:p.Met479Ile
XM_017013976.2:c.1437G>A	XP_016869465.1:p.Met479Ile
XM_017013977.2:c.1137G>A	XP_016869466.1:p.Met379Ile
XM_017013978.2:c.1437G>A	XP_016869467.1:p.Met479Ile
XM_017013979.2:c.534G>A	XP_016869468.1:p.Met178Ile
XM_024447332.1:c.855G>A	XP_024303100.1:p.Met285Ile
XM_024447333.1:c.453G>A	XP_024303101.1:p.Met151Ile
NM_145201.6:c.1218G>A MANE Select	NP_660202.3:p.Met406Ile
NM_001286829.2:c.1218G>A	NP_001273758.1:p.Met406Ile