Canonical Allele Identifier: CA2733020815
Gene: APRT HGNC NCBI

Linked Data

dbSNP Id: rs2142950619

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809643A>G , CM000678.2:g.88809643A>G GRCh38
NC_000016.9:g.88876051A>G , CM000678.1:g.88876051A>G GRCh37
NC_000016.8:g.87403552A>G NCBI36
NG_008013.1:g.7292T>C
NG_028266.1:g.10866A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.*55T>C MANE Select ENSP00000367615.3:n.*55T>C
ENST00000378364.7:c.*55T>C ENSP00000367615.3:n.*55T>C
ENST00000426324.6:c.*59T>C ENSP00000397007.2:n.*59T>C
ENST00000563655.5:c.*55T>C ENSP00000456012.1:n.*55T>C
ENST00000567057.5:n.263T>C
ENST00000567391.5:c.*272T>C ENSP00000457964.1:n.*272T>C
ENST00000567713.5:c.322-108T>C ENSP00000455749.1:n.322-108T>C
ENST00000568319.5:c.*138T>C ENSP00000456905.1:n.*138T>C
ENST00000569616.1:c.663T>C
NM_000485.2:c.*55T>C NP_000476.1:n.*55T>C
NM_001030018.1:c.*59T>C NP_001025189.1:n.*59T>C
NM_000485.3:c.*55T>C MANE Select NP_000476.1:n.*55T>C
NM_001030018.2:c.*59T>C NP_001025189.1:n.*59T>C