Canonical Allele Identifier: CA4912712

Gene: NAPRT

Linked Data

• dbSNP Id: rs557170563
• ExAC: 8:144657616 G / C
• gnomAD v2: 8-144657616-G-C
• gnomAD v3: 8-143575446-G-C
• gnomAD v4: 8-143575446-G-C
• MyVariant Identifiers: chr8:g.144657616G>C (hg19) ; chr8:g.143575446G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575446G>C , CM000670.2:g.143575446G>C	GRCh38
NC_000008.10:g.144657616G>C , CM000670.1:g.144657616G>C	GRCh37
NC_000008.9:g.144728759G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000449291.7:c.1268C>G MANE Select	ENSP00000401508.2:p.Ala423Gly
ENST00000340490.7:c.1268C>G	ENSP00000341136.3:p.Ala423Gly
ENST00000426292.7:c.1268C>G	ENSP00000390949.3:p.Ala423Gly
ENST00000435154.7:c.1268C>G	ENSP00000405670.3:p.Ala423Gly
ENST00000449291.6:c.1268C>G	ENSP00000401508.2:p.Ala423Gly
ENST00000460623.5:c.246C>G
ENST00000464332.5:n.812C>G
ENST00000525583.5:c.1052C>G
NM_001286829.1:c.1268C>G	NP_001273758.1:p.Ala423Gly
NM_145201.5:c.1268C>G	NP_660202.3:p.Ala423Gly
XM_011517377.1:c.1268C>G	XP_011515679.1:p.Ala423Gly
NM_001363145.1:c.1187C>G	NP_001350074.1:p.Ala396Gly
NM_001363146.1:c.584C>G	NP_001350075.1:p.Ala195Gly
XM_017013975.2:c.1487C>G	XP_016869464.1:p.Ala496Gly
XM_017013976.2:c.1487C>G	XP_016869465.1:p.Ala496Gly
XM_017013977.2:c.1187C>G	XP_016869466.1:p.Ala396Gly
XM_017013978.2:c.1487C>G	XP_016869467.1:p.Ala496Gly
XM_017013979.2:c.584C>G	XP_016869468.1:p.Ala195Gly
XM_024447332.1:c.905C>G	XP_024303100.1:p.Ala302Gly
XM_024447333.1:c.503C>G	XP_024303101.1:p.Ala168Gly
NM_145201.6:c.1268C>G MANE Select	NP_660202.3:p.Ala423Gly
NM_001286829.2:c.1268C>G	NP_001273758.1:p.Ala423Gly