Canonical Allele Identifier: CA980350498

Gene: APRT

Linked Data

• dbSNP Id: rs1909053990
• gnomAD v3: 16-88810045-C-T
• gnomAD v4: 16-88810045-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810045C>T , CM000678.2:g.88810045C>T	GRCh38
NC_000016.9:g.88876453C>T , CM000678.1:g.88876453C>T	GRCh37
NC_000016.8:g.87403954C>T	NCBI36
NG_008013.1:g.6890G>A
NG_028266.1:g.11268C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.400+25G>A MANE Select	ENSP00000367615.3:n.400+25G>A
ENST00000378364.7:c.400+25G>A	ENSP00000367615.3:n.400+25G>A
ENST00000426324.6:c.400+25G>A	ENSP00000397007.2:n.400+25G>A
ENST00000562464.1:n.410+25G>A
ENST00000563655.5:c.319+25G>A	ENSP00000456012.1:n.319+25G>A
ENST00000567057.5:n.199+25G>A
ENST00000567391.5:c.*74+25G>A	ENSP00000457964.1:n.*74+25G>A
ENST00000567713.5:c.321+378G>A	ENSP00000455749.1:n.321+378G>A
ENST00000568319.5:c.*74+25G>A	ENSP00000456905.1:n.*74+25G>A
ENST00000568575.1:n.329+25G>A
ENST00000569616.1:c.398+25G>A
NM_000485.2:c.400+25G>A	NP_000476.1:n.400+25G>A
NM_001030018.1:c.400+25G>A	NP_001025189.1:n.400+25G>A
NM_000485.3:c.400+25G>A MANE Select	NP_000476.1:n.400+25G>A
NM_001030018.2:c.400+25G>A	NP_001025189.1:n.400+25G>A