Canonical Allele Identifier: CA2634887473

Gene: APRT

Linked Data

• gnomAD v4: 16-88810252-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810252C>G , CM000678.2:g.88810252C>G	GRCh38
NC_000016.9:g.88876660C>G , CM000678.1:g.88876660C>G	GRCh37
NC_000016.8:g.87404161C>G	NCBI36
NG_008013.1:g.6683G>C
NG_028266.1:g.11475C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.322-104G>C MANE Select	ENSP00000367615.3:n.322-104G>C
ENST00000378364.7:c.322-104G>C	ENSP00000367615.3:n.322-104G>C
ENST00000426324.6:c.322-104G>C	ENSP00000397007.2:n.322-104G>C
ENST00000562464.1:n.332-104G>C
ENST00000563655.5:c.241-104G>C	ENSP00000456012.1:n.241-104G>C
ENST00000567057.5:n.17G>C
ENST00000567391.5:c.188-104G>C	ENSP00000457964.1:n.188-104G>C
ENST00000567713.5:c.321+171G>C	ENSP00000455749.1:n.321+171G>C
ENST00000568319.5:c.188-104G>C	ENSP00000456905.1:n.188-104G>C
ENST00000568575.1:n.147G>C
ENST00000569616.1:c.320-104G>C
NM_000485.2:c.322-104G>C	NP_000476.1:n.322-104G>C
NM_001030018.1:c.322-104G>C	NP_001025189.1:n.322-104G>C
NM_000485.3:c.322-104G>C MANE Select	NP_000476.1:n.322-104G>C
NM_001030018.2:c.322-104G>C	NP_001025189.1:n.322-104G>C