Canonical Allele Identifier: CA463375950
Gene: NAPRT HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.144657672T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143575502T>A , CM000670.2:g.143575502T>A GRCh38
NC_000008.10:g.144657672T>A , CM000670.1:g.144657672T>A GRCh37
NC_000008.9:g.144728815T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000449291.7:c.1212A>T MANE Select ENSP00000401508.2:p.Pro404=
ENST00000340490.7:c.1212A>T ENSP00000341136.3:p.Pro404=
ENST00000426292.7:c.1212A>T ENSP00000390949.3:p.Pro404=
ENST00000435154.7:c.1212A>T ENSP00000405670.3:p.Pro404=
ENST00000449291.6:c.1212A>T ENSP00000401508.2:p.Pro404=
ENST00000460623.5:c.190A>T
ENST00000464332.5:n.756A>T
ENST00000525583.5:c.996A>T
NM_001286829.1:c.1212A>T NP_001273758.1:p.Pro404=
NM_145201.5:c.1212A>T NP_660202.3:p.Pro404=
XM_011517377.1:c.1212A>T XP_011515679.1:p.Pro404=
NM_001363145.1:c.1131A>T NP_001350074.1:p.Pro377=
NM_001363146.1:c.528A>T NP_001350075.1:p.Pro176=
XM_017013975.2:c.1431A>T XP_016869464.1:p.Pro477=
XM_017013976.2:c.1431A>T XP_016869465.1:p.Pro477=
XM_017013977.2:c.1131A>T XP_016869466.1:p.Pro377=
XM_017013978.2:c.1431A>T XP_016869467.1:p.Pro477=
XM_017013979.2:c.528A>T XP_016869468.1:p.Pro176=
XM_024447332.1:c.849A>T XP_024303100.1:p.Pro283=
XM_024447333.1:c.447A>T XP_024303101.1:p.Pro149=
NM_145201.6:c.1212A>T MANE Select NP_660202.3:p.Pro404=
NM_001286829.2:c.1212A>T NP_001273758.1:p.Pro404=