Canonical Allele Identifier: CA372448644

Gene: NAPRT

Linked Data

• dbSNP Id: rs1375005750
• gnomAD v2: 8-144657067-C-A
• gnomAD v3: 8-143574897-C-A
• gnomAD v4: 8-143574897-C-A
• MyVariant Identifiers: chr8:g.144657067C>A (hg19) ; chr8:g.143574897C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574897C>A , CM000670.2:g.143574897C>A	GRCh38
NC_000008.10:g.144657067C>A , CM000670.1:g.144657067C>A	GRCh37
NC_000008.9:g.144728210C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1558G>T MANE Select	ENSP00000401508.2:p.Val520Leu
ENST00000340490.7:c.1643G>T	ENSP00000341136.3:p.Gly548Val
ENST00000426292.7:c.1519G>T	ENSP00000390949.3:p.Val507Leu
ENST00000435154.7:c.*267G>T	ENSP00000405670.3:n.*267G>T
ENST00000449291.6:c.1558G>T	ENSP00000401508.2:p.Val520Leu
ENST00000460623.5:c.582G>T
ENST00000464332.5:n.1102G>T
ENST00000498076.5:n.337G>T
ENST00000529179.1:n.342G>T
NM_001286829.1:c.1519G>T	NP_001273758.1:p.Val507Leu
NM_145201.5:c.1558G>T	NP_660202.3:p.Val520Leu
XM_011517377.1:c.1295G>T	XP_011515679.1:p.Gly432Val
NM_001363145.1:c.1477G>T	NP_001350074.1:p.Val493Leu
NM_001363146.1:c.874G>T	NP_001350075.1:p.Val292Leu
XM_017013975.2:c.1862G>T	XP_016869464.1:p.Gly621Val
XM_017013976.2:c.1777G>T	XP_016869465.1:p.Val593Leu
XM_017013977.2:c.1562G>T	XP_016869466.1:p.Gly521Val
XM_017013978.2:c.1514G>T	XP_016869467.1:p.Gly505Val
XM_017013979.2:c.959G>T	XP_016869468.1:p.Gly320Val
XM_024447332.1:c.932G>T	XP_024303100.1:p.Gly311Val
XM_024447333.1:c.878G>T	XP_024303101.1:p.Gly293Val
NM_145201.6:c.1558G>T MANE Select	NP_660202.3:p.Val520Leu
NM_001286829.2:c.1519G>T	NP_001273758.1:p.Val507Leu