Canonical Allele Identifier: CA2634887064

Gene: APRT

Linked Data

• gnomAD v4: 16-88809646-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809646C>G , CM000678.2:g.88809646C>G	GRCh38
NC_000016.9:g.88876054C>G , CM000678.1:g.88876054C>G	GRCh37
NC_000016.8:g.87403555C>G	NCBI36
NG_008013.1:g.7289G>C
NG_028266.1:g.10869C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*52G>C MANE Select	ENSP00000367615.3:n.*52G>C
ENST00000378364.7:c.*52G>C	ENSP00000367615.3:n.*52G>C
ENST00000426324.6:c.*56G>C	ENSP00000397007.2:n.*56G>C
ENST00000563655.5:c.*52G>C	ENSP00000456012.1:n.*52G>C
ENST00000567057.5:n.260G>C
ENST00000567391.5:c.*269G>C	ENSP00000457964.1:n.*269G>C
ENST00000567713.5:c.322-111G>C	ENSP00000455749.1:n.322-111G>C
ENST00000568319.5:c.*135G>C	ENSP00000456905.1:n.*135G>C
ENST00000569616.1:c.660G>C
NM_000485.2:c.*52G>C	NP_000476.1:n.*52G>C
NM_001030018.1:c.*56G>C	NP_001025189.1:n.*56G>C
NM_000485.3:c.*52G>C MANE Select	NP_000476.1:n.*52G>C
NM_001030018.2:c.*56G>C	NP_001025189.1:n.*56G>C