Canonical Allele Identifier: CA2841422812

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809644G>T , CM000678.2:g.88809644G>T	GRCh38
NC_000016.9:g.88876052G>T , CM000678.1:g.88876052G>T	GRCh37
NC_000016.8:g.87403553G>T	NCBI36
NG_008013.1:g.7291C>A
NG_028266.1:g.10867G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*54C>A MANE Select	ENSP00000367615.3:n.*54C>A
ENST00000378364.7:c.*54C>A	ENSP00000367615.3:n.*54C>A
ENST00000426324.6:c.*58C>A	ENSP00000397007.2:n.*58C>A
ENST00000563655.5:c.*54C>A	ENSP00000456012.1:n.*54C>A
ENST00000567057.5:n.262C>A
ENST00000567391.5:c.*271C>A	ENSP00000457964.1:n.*271C>A
ENST00000567713.5:c.322-109C>A	ENSP00000455749.1:n.322-109C>A
ENST00000568319.5:c.*137C>A	ENSP00000456905.1:n.*137C>A
ENST00000569616.1:c.662C>A
NM_000485.2:c.*54C>A	NP_000476.1:n.*54C>A
NM_001030018.1:c.*58C>A	NP_001025189.1:n.*58C>A
NM_000485.3:c.*54C>A MANE Select	NP_000476.1:n.*54C>A
NM_001030018.2:c.*58C>A	NP_001025189.1:n.*58C>A