Canonical Allele Identifier: CA463512275

Gene: NAPRT

Linked Data

• gnomAD v4: 8-143575448-A-C
• MyVariant Identifiers: chr8:g.144657618A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575448A>C , CM000670.2:g.143575448A>C	GRCh38
NC_000008.10:g.144657618A>C , CM000670.1:g.144657618A>C	GRCh37
NC_000008.9:g.144728761A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000449291.7:c.1266T>G MANE Select	ENSP00000401508.2:p.Ala422=
ENST00000340490.7:c.1266T>G	ENSP00000341136.3:p.Ala422=
ENST00000426292.7:c.1266T>G	ENSP00000390949.3:p.Ala422=
ENST00000435154.7:c.1266T>G	ENSP00000405670.3:p.Ala422=
ENST00000449291.6:c.1266T>G	ENSP00000401508.2:p.Ala422=
ENST00000460623.5:c.244T>G
ENST00000464332.5:n.810T>G
ENST00000525583.5:c.1050T>G
NM_001286829.1:c.1266T>G	NP_001273758.1:p.Ala422=
NM_145201.5:c.1266T>G	NP_660202.3:p.Ala422=
XM_011517377.1:c.1266T>G	XP_011515679.1:p.Ala422=
NM_001363145.1:c.1185T>G	NP_001350074.1:p.Ala395=
NM_001363146.1:c.582T>G	NP_001350075.1:p.Ala194=
XM_017013975.2:c.1485T>G	XP_016869464.1:p.Ala495=
XM_017013976.2:c.1485T>G	XP_016869465.1:p.Ala495=
XM_017013977.2:c.1185T>G	XP_016869466.1:p.Ala395=
XM_017013978.2:c.1485T>G	XP_016869467.1:p.Ala495=
XM_017013979.2:c.582T>G	XP_016869468.1:p.Ala194=
XM_024447332.1:c.903T>G	XP_024303100.1:p.Ala301=
XM_024447333.1:c.501T>G	XP_024303101.1:p.Ala167=
NM_145201.6:c.1266T>G MANE Select	NP_660202.3:p.Ala422=
NM_001286829.2:c.1266T>G	NP_001273758.1:p.Ala422=