Canonical Allele Identifier: CA4912716

Gene: NAPRT

Linked Data

• dbSNP Id: rs375185490
• ExAC: 8:144657633 C / T
• gnomAD v2: 8-144657633-C-T
• gnomAD v3: 8-143575463-C-T
• gnomAD v4: 8-143575463-C-T
• MyVariant Identifiers: chr8:g.144657633C>T (hg19) ; chr8:g.143575463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143575463C>T , CM000670.2:g.143575463C>T	GRCh38
NC_000008.10:g.144657633C>T , CM000670.1:g.144657633C>T	GRCh37
NC_000008.9:g.144728776C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1251G>A MANE Select	ENSP00000401508.2:p.Leu417=
ENST00000340490.7:c.1251G>A	ENSP00000341136.3:p.Leu417=
ENST00000426292.7:c.1251G>A	ENSP00000390949.3:p.Leu417=
ENST00000435154.7:c.1251G>A	ENSP00000405670.3:p.Leu417=
ENST00000449291.6:c.1251G>A	ENSP00000401508.2:p.Leu417=
ENST00000460623.5:c.229G>A
ENST00000464332.5:n.795G>A
ENST00000525583.5:c.1035G>A
NM_001286829.1:c.1251G>A	NP_001273758.1:p.Leu417=
NM_145201.5:c.1251G>A	NP_660202.3:p.Leu417=
XM_011517377.1:c.1251G>A	XP_011515679.1:p.Leu417=
NM_001363145.1:c.1170G>A	NP_001350074.1:p.Leu390=
NM_001363146.1:c.567G>A	NP_001350075.1:p.Leu189=
XM_017013975.2:c.1470G>A	XP_016869464.1:p.Leu490=
XM_017013976.2:c.1470G>A	XP_016869465.1:p.Leu490=
XM_017013977.2:c.1170G>A	XP_016869466.1:p.Leu390=
XM_017013978.2:c.1470G>A	XP_016869467.1:p.Leu490=
XM_017013979.2:c.567G>A	XP_016869468.1:p.Leu189=
XM_024447332.1:c.888G>A	XP_024303100.1:p.Leu296=
XM_024447333.1:c.486G>A	XP_024303101.1:p.Leu162=
NM_145201.6:c.1251G>A MANE Select	NP_660202.3:p.Leu417=
NM_001286829.2:c.1251G>A	NP_001273758.1:p.Leu417=