Canonical Allele Identifier: CA397088195
Community Standard Title: NM_000485.3(APRT):c.311A>G (p.Glu104Gly)
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810433T>C , CM000678.2:g.88810433T>C GRCh38
NC_000016.9:g.88876841T>C , CM000678.1:g.88876841T>C GRCh37
NC_000016.8:g.87404342T>C NCBI36
NG_008013.1:g.6502A>G
NG_028266.1:g.11656T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000485.3:c.311A>G MANE Select NP_000476.1:p.Glu104Gly
ENST00000378364.8:c.311A>G MANE Select ENSP00000367615.3:p.Glu104Gly
NM_000485.2:c.311A>G NP_000476.1:p.Glu104Gly
NM_001030018.1:c.311A>G NP_001025189.1:p.Glu104Gly
NM_001030018.2:c.311A>G NP_001025189.1:p.Glu104Gly
ENST00000378364.7:c.311A>G ENSP00000367615.3:p.Glu104Gly
ENST00000426324.6:c.311A>G ENSP00000397007.2:p.Glu104Gly
ENST00000562464.1:n.332-285A>G
ENST00000563655.5:c.241-285A>G ENSP00000456012.1:n.241-285A>G
ENST00000567391.5:c.188-285A>G ENSP00000457964.1:n.188-285A>G
ENST00000567713.5:c.311A>G ENSP00000455749.1:p.Glu104Gly
ENST00000568319.5:c.188-285A>G ENSP00000456905.1:n.188-285A>G
ENST00000569616.1:c.309A>G