Canonical Allele Identifier: CA397088075
Gene: APRT HGNC NCBI

Linked Data

dbSNP Id: rs1479085979

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810148C>A , CM000678.2:g.88810148C>A GRCh38
NC_000016.9:g.88876556C>A , CM000678.1:g.88876556C>A GRCh37
NC_000016.8:g.87404057C>A NCBI36
NG_008013.1:g.6787G>T
NG_028266.1:g.11371C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.322G>T MANE Select ENSP00000367615.3:p.Ala108Ser
ENST00000378364.7:c.322G>T ENSP00000367615.3:p.Ala108Ser
ENST00000426324.6:c.322G>T ENSP00000397007.2:p.Ala108Ser
ENST00000562464.1:n.332G>T
ENST00000563655.5:c.241G>T ENSP00000456012.1:p.Ala81Ser
ENST00000567057.5:n.121G>T
ENST00000567391.5:c.188G>T ENSP00000457964.1:p.Gly63Val
ENST00000567713.5:c.321+275G>T ENSP00000455749.1:n.321+275G>T
ENST00000568319.5:c.188G>T ENSP00000456905.1:p.Gly63Val
ENST00000568575.1:n.251G>T
ENST00000569616.1:c.320G>T
NM_000485.2:c.322G>T NP_000476.1:p.Ala108Ser
NM_001030018.1:c.322G>T NP_001025189.1:p.Ala108Ser
NM_000485.3:c.322G>T MANE Select NP_000476.1:p.Ala108Ser
NM_001030018.2:c.322G>T NP_001025189.1:p.Ala108Ser