Canonical Allele Identifier: CA4912723

Gene: NAPRT

Linked Data

• dbSNP Id: rs139521261
• ExAC: 8:144657653 C / T
• gnomAD v2: 8-144657653-C-T
• gnomAD v3: 8-143575483-C-T
• gnomAD v4: 8-143575483-C-T
• MyVariant Identifiers: chr8:g.144657653C>T (hg19) ; chr8:g.143575483C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575483C>T , CM000670.2:g.143575483C>T	GRCh38
NC_000008.10:g.144657653C>T , CM000670.1:g.144657653C>T	GRCh37
NC_000008.9:g.144728796C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1231G>A MANE Select	ENSP00000401508.2:p.Asp411Asn
ENST00000340490.7:c.1231G>A	ENSP00000341136.3:p.Asp411Asn
ENST00000426292.7:c.1231G>A	ENSP00000390949.3:p.Asp411Asn
ENST00000435154.7:c.1231G>A	ENSP00000405670.3:p.Asp411Asn
ENST00000449291.6:c.1231G>A	ENSP00000401508.2:p.Asp411Asn
ENST00000460623.5:c.209G>A
ENST00000464332.5:n.775G>A
ENST00000525583.5:c.1015G>A
NM_001286829.1:c.1231G>A	NP_001273758.1:p.Asp411Asn
NM_145201.5:c.1231G>A	NP_660202.3:p.Asp411Asn
XM_011517377.1:c.1231G>A	XP_011515679.1:p.Asp411Asn
NM_001363145.1:c.1150G>A	NP_001350074.1:p.Asp384Asn
NM_001363146.1:c.547G>A	NP_001350075.1:p.Asp183Asn
XM_017013975.2:c.1450G>A	XP_016869464.1:p.Asp484Asn
XM_017013976.2:c.1450G>A	XP_016869465.1:p.Asp484Asn
XM_017013977.2:c.1150G>A	XP_016869466.1:p.Asp384Asn
XM_017013978.2:c.1450G>A	XP_016869467.1:p.Asp484Asn
XM_017013979.2:c.547G>A	XP_016869468.1:p.Asp183Asn
XM_024447332.1:c.868G>A	XP_024303100.1:p.Asp290Asn
XM_024447333.1:c.466G>A	XP_024303101.1:p.Asp156Asn
NM_145201.6:c.1231G>A MANE Select	NP_660202.3:p.Asp411Asn
NM_001286829.2:c.1231G>A	NP_001273758.1:p.Asp411Asn