Canonical Allele Identifier: CA397090335

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88811618C>G , CM000678.2:g.88811618C>G	GRCh38
NC_000016.9:g.88878026C>G , CM000678.1:g.88878026C>G	GRCh37
NC_000016.8:g.87405527C>G	NCBI36
NG_008013.1:g.5317G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000485.3:c.119G>C MANE Select	NP_000476.1:p.Arg40Pro
ENST00000378364.8:c.119G>C MANE Select	ENSP00000367615.3:p.Arg40Pro
NM_000485.2:c.119G>C	NP_000476.1:p.Arg40Pro
NM_001030018.1:c.119G>C	NP_001025189.1:p.Arg40Pro
NM_001030018.2:c.119G>C	NP_001025189.1:p.Arg40Pro
ENST00000378364.7:c.119G>C	ENSP00000367615.3:p.Arg40Pro
ENST00000426324.6:c.119G>C	ENSP00000397007.2:p.Arg40Pro
ENST00000562464.1:n.263G>C
ENST00000563655.5:c.119G>C	ENSP00000456012.1:p.Arg40Pro
ENST00000564858.1:n.140G>C
ENST00000567391.5:c.119G>C	ENSP00000457964.1:p.Arg40Pro
ENST00000567713.5:c.119G>C	ENSP00000455749.1:p.Arg40Pro
ENST00000568319.5:c.119G>C	ENSP00000456905.1:p.Arg40Pro
ENST00000569616.1:c.117G>C