Canonical Allele Identifier: CA2600539478

Gene: APRT

Linked Data

• dbSNP Id: rs2142950688
• gnomAD v3: 16-88809680-G-C
• gnomAD v4: 16-88809680-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809680G>C , CM000678.2:g.88809680G>C	GRCh38
NC_000016.9:g.88876088G>C , CM000678.1:g.88876088G>C	GRCh37
NC_000016.8:g.87403589G>C	NCBI36
NG_008013.1:g.7255C>G
NG_028266.1:g.10903G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*18C>G MANE Select	ENSP00000367615.3:n.*18C>G
ENST00000378364.7:c.*18C>G	ENSP00000367615.3:n.*18C>G
ENST00000426324.6:c.*22C>G	ENSP00000397007.2:n.*22C>G
ENST00000563655.5:c.*18C>G	ENSP00000456012.1:n.*18C>G
ENST00000567057.5:n.226C>G
ENST00000567391.5:c.*235C>G	ENSP00000457964.1:n.*235C>G
ENST00000567713.5:c.322-145C>G	ENSP00000455749.1:n.322-145C>G
ENST00000568319.5:c.*101C>G	ENSP00000456905.1:n.*101C>G
ENST00000568575.1:n.490C>G
ENST00000569616.1:c.626C>G
NM_000485.2:c.*18C>G	NP_000476.1:n.*18C>G
NM_001030018.1:c.*22C>G	NP_001025189.1:n.*22C>G
NM_000485.3:c.*18C>G MANE Select	NP_000476.1:n.*18C>G
NM_001030018.2:c.*22C>G	NP_001025189.1:n.*22C>G