Canonical Allele Identifier: CA397088577
Gene: APRT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810502A>C , CM000678.2:g.88810502A>C GRCh38
NC_000016.9:g.88876910A>C , CM000678.1:g.88876910A>C GRCh37
NC_000016.8:g.87404411A>C NCBI36
NG_008013.1:g.6433T>G
NG_028266.1:g.11725A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.242T>G MANE Select ENSP00000367615.3:p.Leu81Arg
ENST00000378364.7:c.242T>G ENSP00000367615.3:p.Leu81Arg
ENST00000426324.6:c.242T>G ENSP00000397007.2:p.Leu81Arg
ENST00000562464.1:n.332-354T>G
ENST00000563655.5:c.241-354T>G ENSP00000456012.1:n.241-354T>G
ENST00000567391.5:c.188-354T>G ENSP00000457964.1:n.188-354T>G
ENST00000567713.5:c.242T>G ENSP00000455749.1:p.Leu81Arg
ENST00000568319.5:c.188-354T>G ENSP00000456905.1:n.188-354T>G
ENST00000569616.1:c.240T>G
NM_000485.2:c.242T>G NP_000476.1:p.Leu81Arg
NM_001030018.1:c.242T>G NP_001025189.1:p.Leu81Arg
NM_000485.3:c.242T>G MANE Select NP_000476.1:p.Leu81Arg
NM_001030018.2:c.242T>G NP_001025189.1:p.Leu81Arg