Canonical Allele Identifier: CA397088890
Gene: APRT HGNC NCBI

Linked Data

dbSNP Id: rs1344070015

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810548A>G , CM000678.2:g.88810548A>G GRCh38
NC_000016.9:g.88876956A>G , CM000678.1:g.88876956A>G GRCh37
NC_000016.8:g.87404457A>G NCBI36
NG_008013.1:g.6387T>C
NG_028266.1:g.11771A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.196T>C MANE Select ENSP00000367615.3:p.Ser66Pro
ENST00000378364.7:c.196T>C ENSP00000367615.3:p.Ser66Pro
ENST00000426324.6:c.196T>C ENSP00000397007.2:p.Ser66Pro
ENST00000562464.1:n.332-400T>C
ENST00000563655.5:c.241-400T>C ENSP00000456012.1:n.241-400T>C
ENST00000567391.5:c.188-400T>C ENSP00000457964.1:n.188-400T>C
ENST00000567713.5:c.196T>C ENSP00000455749.1:p.Ser66Pro
ENST00000568319.5:c.188-400T>C ENSP00000456905.1:n.188-400T>C
ENST00000569616.1:c.194T>C
NM_000485.2:c.196T>C NP_000476.1:p.Ser66Pro
NM_001030018.1:c.196T>C NP_001025189.1:p.Ser66Pro
NM_000485.3:c.196T>C MANE Select NP_000476.1:p.Ser66Pro
NM_001030018.2:c.196T>C NP_001025189.1:p.Ser66Pro