Canonical Allele Identifier: CA8234446

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810124C>T , CM000678.2:g.88810124C>T	GRCh38
NC_000016.9:g.88876532C>T , CM000678.1:g.88876532C>T	GRCh37
NC_000016.8:g.87404033C>T	NCBI36
NG_008013.1:g.6811G>A
NG_028266.1:g.11347C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000485.3:c.346G>A MANE Select	NP_000476.1:p.Ala116Thr
ENST00000378364.8:c.346G>A MANE Select	ENSP00000367615.3:p.Ala116Thr
NM_000485.2:c.346G>A	NP_000476.1:p.Ala116Thr
NM_001030018.1:c.346G>A	NP_001025189.1:p.Ala116Thr
NM_001030018.2:c.346G>A	NP_001025189.1:p.Ala116Thr
ENST00000378364.7:c.346G>A	ENSP00000367615.3:p.Ala116Thr
ENST00000426324.6:c.346G>A	ENSP00000397007.2:p.Ala116Thr
ENST00000562464.1:n.356G>A
ENST00000563655.5:c.265G>A	ENSP00000456012.1:p.Ala89Thr
ENST00000567057.5:n.145G>A
ENST00000567391.5:c.*20G>A	ENSP00000457964.1:n.*20G>A
ENST00000567713.5:c.321+299G>A	ENSP00000455749.1:n.321+299G>A
ENST00000568319.5:c.*20G>A	ENSP00000456905.1:n.*20G>A
ENST00000568575.1:n.275G>A
ENST00000569616.1:c.344G>A