Canonical Allele Identifier: CA2576093948

Gene: APRT

Linked Data

• gnomAD v4: 16-88809681-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809681G>T , CM000678.2:g.88809681G>T	GRCh38
NC_000016.9:g.88876089G>T , CM000678.1:g.88876089G>T	GRCh37
NC_000016.8:g.87403590G>T	NCBI36
NG_008013.1:g.7254C>A
NG_028266.1:g.10904G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*17C>A MANE Select	ENSP00000367615.3:n.*17C>A
ENST00000378364.7:c.*17C>A	ENSP00000367615.3:n.*17C>A
ENST00000426324.6:c.*21C>A	ENSP00000397007.2:n.*21C>A
ENST00000563655.5:c.*17C>A	ENSP00000456012.1:n.*17C>A
ENST00000567057.5:n.225C>A
ENST00000567391.5:c.*234C>A	ENSP00000457964.1:n.*234C>A
ENST00000567713.5:c.322-146C>A	ENSP00000455749.1:n.322-146C>A
ENST00000568319.5:c.*100C>A	ENSP00000456905.1:n.*100C>A
ENST00000568575.1:n.489C>A
ENST00000569616.1:c.625C>A
NM_000485.2:c.*17C>A	NP_000476.1:n.*17C>A
NM_001030018.1:c.*21C>A	NP_001025189.1:n.*21C>A
NM_000485.3:c.*17C>A MANE Select	NP_000476.1:n.*17C>A
NM_001030018.2:c.*21C>A	NP_001025189.1:n.*21C>A