Canonical Allele Identifier: CA624209203

Gene: APRT

Linked Data

• dbSNP Id: rs989947379
• gnomAD v2: 16-88876043-G-A
• gnomAD v3: 16-88809635-G-A
• gnomAD v4: 16-88809635-G-A
• MyVariant Identifiers: chr16:g.88876043G>A (hg19) ; chr16:g.88809635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809635G>A , CM000678.2:g.88809635G>A	GRCh38
NC_000016.9:g.88876043G>A , CM000678.1:g.88876043G>A	GRCh37
NC_000016.8:g.87403544G>A	NCBI36
NG_008013.1:g.7300C>T
NG_028266.1:g.10858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*63C>T MANE Select	ENSP00000367615.3:n.*63C>T
ENST00000378364.7:c.*63C>T	ENSP00000367615.3:n.*63C>T
ENST00000426324.6:c.*67C>T	ENSP00000397007.2:n.*67C>T
ENST00000563655.5:c.*63C>T	ENSP00000456012.1:n.*63C>T
ENST00000567057.5:n.271C>T
ENST00000567391.5:c.*280C>T	ENSP00000457964.1:n.*280C>T
ENST00000567713.5:c.322-100C>T	ENSP00000455749.1:n.322-100C>T
ENST00000568319.5:c.*146C>T	ENSP00000456905.1:n.*146C>T
ENST00000569616.1:c.671C>T
NM_000485.2:c.*63C>T	NP_000476.1:n.*63C>T
NM_001030018.1:c.*67C>T	NP_001025189.1:n.*67C>T
NM_000485.3:c.*63C>T MANE Select	NP_000476.1:n.*63C>T
NM_001030018.2:c.*67C>T	NP_001025189.1:n.*67C>T