Canonical Allele Identifier: CA2576093946

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809672A>G , CM000678.2:g.88809672A>G	GRCh38
NC_000016.9:g.88876080A>G , CM000678.1:g.88876080A>G	GRCh37
NC_000016.8:g.87403581A>G	NCBI36
NG_008013.1:g.7263T>C
NG_028266.1:g.10895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*26T>C MANE Select	ENSP00000367615.3:n.*26T>C
ENST00000378364.7:c.*26T>C	ENSP00000367615.3:n.*26T>C
ENST00000426324.6:c.*30T>C	ENSP00000397007.2:n.*30T>C
ENST00000563655.5:c.*26T>C	ENSP00000456012.1:n.*26T>C
ENST00000567057.5:n.234T>C
ENST00000567391.5:c.*243T>C	ENSP00000457964.1:n.*243T>C
ENST00000567713.5:c.322-137T>C	ENSP00000455749.1:n.322-137T>C
ENST00000568319.5:c.*109T>C	ENSP00000456905.1:n.*109T>C
ENST00000569616.1:c.634T>C
NM_000485.2:c.*26T>C	NP_000476.1:n.*26T>C
NM_001030018.1:c.*30T>C	NP_001025189.1:n.*30T>C
NM_000485.3:c.*26T>C MANE Select	NP_000476.1:n.*26T>C
NM_001030018.2:c.*30T>C	NP_001025189.1:n.*30T>C