Canonical Allele Identifier: CA372448664

Gene: NAPRT

Linked Data

• dbSNP Id: rs1479711621
• gnomAD v2: 8-144657070-C-T
• gnomAD v3: 8-143574900-C-T
• gnomAD v4: 8-143574900-C-T
• MyVariant Identifiers: chr8:g.144657070C>T (hg19) ; chr8:g.143574900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574900C>T , CM000670.2:g.143574900C>T	GRCh38
NC_000008.10:g.144657070C>T , CM000670.1:g.144657070C>T	GRCh37
NC_000008.9:g.144728213C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555G>A MANE Select	ENSP00000401508.2:p.Val519Met
ENST00000340490.7:c.1640G>A	ENSP00000341136.3:p.Gly547Asp
ENST00000426292.7:c.1516G>A	ENSP00000390949.3:p.Val506Met
ENST00000435154.7:c.*264G>A	ENSP00000405670.3:n.*264G>A
ENST00000449291.6:c.1555G>A	ENSP00000401508.2:p.Val519Met
ENST00000460623.5:c.579G>A
ENST00000464332.5:n.1099G>A
ENST00000498076.5:n.334G>A
ENST00000529179.1:n.339G>A
NM_001286829.1:c.1516G>A	NP_001273758.1:p.Val506Met
NM_145201.5:c.1555G>A	NP_660202.3:p.Val519Met
XM_011517377.1:c.1292G>A	XP_011515679.1:p.Gly431Asp
NM_001363145.1:c.1474G>A	NP_001350074.1:p.Val492Met
NM_001363146.1:c.871G>A	NP_001350075.1:p.Val291Met
XM_017013975.2:c.1859G>A	XP_016869464.1:p.Gly620Asp
XM_017013976.2:c.1774G>A	XP_016869465.1:p.Val592Met
XM_017013977.2:c.1559G>A	XP_016869466.1:p.Gly520Asp
XM_017013978.2:c.1511G>A	XP_016869467.1:p.Gly504Asp
XM_017013979.2:c.956G>A	XP_016869468.1:p.Gly319Asp
XM_024447332.1:c.929G>A	XP_024303100.1:p.Gly310Asp
XM_024447333.1:c.875G>A	XP_024303101.1:p.Gly292Asp
NM_145201.6:c.1555G>A MANE Select	NP_660202.3:p.Val519Met
NM_001286829.2:c.1516G>A	NP_001273758.1:p.Val506Met