Canonical Allele Identifier: CA2241307839

Gene: APRT

Linked Data

• dbSNP Id: rs1909031834
• gnomAD v4: 16-88809692-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809692C>G , CM000678.2:g.88809692C>G	GRCh38
NC_000016.9:g.88876100C>G , CM000678.1:g.88876100C>G	GRCh37
NC_000016.8:g.87403601C>G	NCBI36
NG_008013.1:g.7243G>C
NG_028266.1:g.10915C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*6G>C MANE Select	ENSP00000367615.3:n.*6G>C
ENST00000378364.7:c.*6G>C	ENSP00000367615.3:n.*6G>C
ENST00000426324.6:c.*10G>C	ENSP00000397007.2:n.*10G>C
ENST00000563655.5:c.*6G>C	ENSP00000456012.1:n.*6G>C
ENST00000567057.5:n.214G>C
ENST00000567391.5:c.*223G>C	ENSP00000457964.1:n.*223G>C
ENST00000567713.5:c.322-157G>C	ENSP00000455749.1:n.322-157G>C
ENST00000568319.5:c.*89G>C	ENSP00000456905.1:n.*89G>C
ENST00000568575.1:n.478G>C
ENST00000569616.1:c.614G>C
NM_000485.2:c.*6G>C	NP_000476.1:n.*6G>C
NM_001030018.1:c.*10G>C	NP_001025189.1:n.*10G>C
NM_000485.3:c.*6G>C MANE Select	NP_000476.1:n.*6G>C
NM_001030018.2:c.*10G>C	NP_001025189.1:n.*10G>C