Canonical Allele Identifier: CA2808070178
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810250T>C , CM000678.2:g.88810250T>C GRCh38
NC_000016.9:g.88876658T>C , CM000678.1:g.88876658T>C GRCh37
NC_000016.8:g.87404159T>C NCBI36
NG_008013.1:g.6685A>G
NG_028266.1:g.11473T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.322-102A>G MANE Select ENSP00000367615.3:n.322-102A>G
ENST00000378364.7:c.322-102A>G ENSP00000367615.3:n.322-102A>G
ENST00000426324.6:c.322-102A>G ENSP00000397007.2:n.322-102A>G
ENST00000562464.1:n.332-102A>G
ENST00000563655.5:c.241-102A>G ENSP00000456012.1:n.241-102A>G
ENST00000567057.5:n.19A>G
ENST00000567391.5:c.188-102A>G ENSP00000457964.1:n.188-102A>G
ENST00000567713.5:c.321+173A>G ENSP00000455749.1:n.321+173A>G
ENST00000568319.5:c.188-102A>G ENSP00000456905.1:n.188-102A>G
ENST00000568575.1:n.149A>G
ENST00000569616.1:c.320-102A>G
NM_000485.2:c.322-102A>G NP_000476.1:n.322-102A>G
NM_001030018.1:c.322-102A>G NP_001025189.1:n.322-102A>G
NM_000485.3:c.322-102A>G MANE Select NP_000476.1:n.322-102A>G
NM_001030018.2:c.322-102A>G NP_001025189.1:n.322-102A>G