Canonical Allele Identifier: CA2634887057

Gene: APRT

Linked Data

• gnomAD v4: 16-88809619-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809619G>T , CM000678.2:g.88809619G>T	GRCh38
NC_000016.9:g.88876027G>T , CM000678.1:g.88876027G>T	GRCh37
NC_000016.8:g.87403528G>T	NCBI36
NG_008013.1:g.7316C>A
NG_028266.1:g.10842G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*79C>A MANE Select	ENSP00000367615.3:n.*79C>A
ENST00000378364.7:c.*79C>A	ENSP00000367615.3:n.*79C>A
ENST00000426324.6:c.*83C>A	ENSP00000397007.2:n.*83C>A
ENST00000563655.5:c.*79C>A	ENSP00000456012.1:n.*79C>A
ENST00000567057.5:n.287C>A
ENST00000567391.5:c.*296C>A	ENSP00000457964.1:n.*296C>A
ENST00000567713.5:c.322-84C>A	ENSP00000455749.1:n.322-84C>A
ENST00000568319.5:c.*162C>A	ENSP00000456905.1:n.*162C>A
ENST00000569616.1:c.687C>A
NM_000485.2:c.*79C>A	NP_000476.1:n.*79C>A
NM_001030018.1:c.*83C>A	NP_001025189.1:n.*83C>A
NM_000485.3:c.*79C>A MANE Select	NP_000476.1:n.*79C>A
NM_001030018.2:c.*83C>A	NP_001025189.1:n.*83C>A