Canonical Allele Identifier: CA2634887060

Gene: APRT

Linked Data

• gnomAD v4: 16-88809631-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809631T>C , CM000678.2:g.88809631T>C	GRCh38
NC_000016.9:g.88876039T>C , CM000678.1:g.88876039T>C	GRCh37
NC_000016.8:g.87403540T>C	NCBI36
NG_008013.1:g.7304A>G
NG_028266.1:g.10854T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*67A>G MANE Select	ENSP00000367615.3:n.*67A>G
ENST00000378364.7:c.*67A>G	ENSP00000367615.3:n.*67A>G
ENST00000426324.6:c.*71A>G	ENSP00000397007.2:n.*71A>G
ENST00000563655.5:c.*67A>G	ENSP00000456012.1:n.*67A>G
ENST00000567057.5:n.275A>G
ENST00000567391.5:c.*284A>G	ENSP00000457964.1:n.*284A>G
ENST00000567713.5:c.322-96A>G	ENSP00000455749.1:n.322-96A>G
ENST00000568319.5:c.*150A>G	ENSP00000456905.1:n.*150A>G
ENST00000569616.1:c.675A>G
NM_000485.2:c.*67A>G	NP_000476.1:n.*67A>G
NM_001030018.1:c.*71A>G	NP_001025189.1:n.*71A>G
NM_000485.3:c.*67A>G MANE Select	NP_000476.1:n.*67A>G
NM_001030018.2:c.*71A>G	NP_001025189.1:n.*71A>G