Canonical Allele Identifier: CA980350669

Gene: APRT

Linked Data

• dbSNP Id: rs1909073991
• gnomAD v3: 16-88810364-G-A
• gnomAD v4: 16-88810364-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810364G>A , CM000678.2:g.88810364G>A	GRCh38
NC_000016.9:g.88876772G>A , CM000678.1:g.88876772G>A	GRCh37
NC_000016.8:g.87404273G>A	NCBI36
NG_008013.1:g.6571C>T
NG_028266.1:g.11587G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378364.8:c.321+59C>T MANE Select	ENSP00000367615.3:n.321+59C>T
ENST00000378364.7:c.321+59C>T	ENSP00000367615.3:n.321+59C>T
ENST00000426324.6:c.321+59C>T	ENSP00000397007.2:n.321+59C>T
ENST00000562464.1:n.332-216C>T
ENST00000563655.5:c.241-216C>T	ENSP00000456012.1:n.241-216C>T
ENST00000567391.5:c.188-216C>T	ENSP00000457964.1:n.188-216C>T
ENST00000567713.5:c.321+59C>T	ENSP00000455749.1:n.321+59C>T
ENST00000568319.5:c.188-216C>T	ENSP00000456905.1:n.188-216C>T
ENST00000568575.1:n.35C>T
ENST00000569616.1:c.319+59C>T
NM_000485.2:c.321+59C>T	NP_000476.1:n.321+59C>T
NM_001030018.1:c.321+59C>T	NP_001025189.1:n.321+59C>T
NM_000485.3:c.321+59C>T MANE Select	NP_000476.1:n.321+59C>T
NM_001030018.2:c.321+59C>T	NP_001025189.1:n.321+59C>T