Canonical Allele Identifier: CA2808070180

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810299C>G , CM000678.2:g.88810299C>G	GRCh38
NC_000016.9:g.88876707C>G , CM000678.1:g.88876707C>G	GRCh37
NC_000016.8:g.87404208C>G	NCBI36
NG_008013.1:g.6636G>C
NG_028266.1:g.11522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.321+124G>C MANE Select	ENSP00000367615.3:n.321+124G>C
ENST00000378364.7:c.321+124G>C	ENSP00000367615.3:n.321+124G>C
ENST00000426324.6:c.321+124G>C	ENSP00000397007.2:n.321+124G>C
ENST00000562464.1:n.332-151G>C
ENST00000563655.5:c.241-151G>C	ENSP00000456012.1:n.241-151G>C
ENST00000567391.5:c.188-151G>C	ENSP00000457964.1:n.188-151G>C
ENST00000567713.5:c.321+124G>C	ENSP00000455749.1:n.321+124G>C
ENST00000568319.5:c.188-151G>C	ENSP00000456905.1:n.188-151G>C
ENST00000568575.1:n.100G>C
ENST00000569616.1:c.319+124G>C
NM_000485.2:c.321+124G>C	NP_000476.1:n.321+124G>C
NM_001030018.1:c.321+124G>C	NP_001025189.1:n.321+124G>C
NM_000485.3:c.321+124G>C MANE Select	NP_000476.1:n.321+124G>C
NM_001030018.2:c.321+124G>C	NP_001025189.1:n.321+124G>C