Canonical Allele Identifier: CA4912699

Gene: NAPRT

Linked Data

• dbSNP Id: rs368093504
• ExAC: 8:144657587 C / T
• gnomAD v2: 8-144657587-C-T
• gnomAD v4: 8-143575417-C-T
• MyVariant Identifiers: chr8:g.144657587C>T (hg19) ; chr8:g.143575417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575417C>T , CM000670.2:g.143575417C>T	GRCh38
NC_000008.10:g.144657587C>T , CM000670.1:g.144657587C>T	GRCh37
NC_000008.9:g.144728730C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1291+6G>A MANE Select	ENSP00000401508.2:n.1291+6G>A
ENST00000340490.7:c.1291+6G>A	ENSP00000341136.3:n.1291+6G>A
ENST00000426292.7:c.1291+6G>A	ENSP00000390949.3:n.1291+6G>A
ENST00000435154.7:c.1291+6G>A	ENSP00000405670.3:n.1291+6G>A
ENST00000449291.6:c.1291+6G>A	ENSP00000401508.2:n.1291+6G>A
ENST00000460623.5:c.269+6G>A
ENST00000464332.5:n.835+6G>A
NM_001286829.1:c.1291+6G>A	NP_001273758.1:n.1291+6G>A
NM_145201.5:c.1291+6G>A	NP_660202.3:n.1291+6G>A
XM_011517377.1:c.1291+6G>A	XP_011515679.1:n.1291+6G>A
NM_001363145.1:c.1210+6G>A	NP_001350074.1:n.1210+6G>A
NM_001363146.1:c.607+6G>A	NP_001350075.1:n.607+6G>A
XM_017013975.2:c.1510+6G>A	XP_016869464.1:n.1510+6G>A
XM_017013976.2:c.1510+6G>A	XP_016869465.1:n.1510+6G>A
XM_017013977.2:c.1210+6G>A	XP_016869466.1:n.1210+6G>A
XM_017013978.2:c.1510+6G>A	XP_016869467.1:n.1510+6G>A
XM_017013979.2:c.607+6G>A	XP_016869468.1:n.607+6G>A
XM_024447332.1:c.928+6G>A	XP_024303100.1:n.928+6G>A
XM_024447333.1:c.526+6G>A	XP_024303101.1:n.526+6G>A
NM_145201.6:c.1291+6G>A MANE Select	NP_660202.3:n.1291+6G>A
NM_001286829.2:c.1291+6G>A	NP_001273758.1:n.1291+6G>A