Canonical Allele Identifier: CA16608320

Gene: PET100

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7631458C>T , CM000681.2:g.7631458C>T	GRCh38
NC_000019.9:g.7696344C>T , CM000681.1:g.7696344C>T	GRCh37
NC_000019.8:g.7602344C>T	NCBI36
NG_034117.1:g.6674C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001171155.2:c.139-15C>T MANE Select	NP_001164626.1:n.139-15C>T
ENST00000594797.6:c.139-15C>T MANE Select	ENSP00000470539.1:n.139-15C>T
NM_001171155.1:c.139-15C>T	NP_001164626.1:n.139-15C>T
NR_033242.1:n.278-15C>T
NR_033242.2:n.270-15C>T
ENST00000456958.7:c.52-15C>T	ENSP00000392303.3:n.52-15C>T
ENST00000594797.5:c.139-15C>T	ENSP00000470539.1:n.139-15C>T
ENST00000595866.1:c.136+612C>T
ENST00000595866.2:c.138+612C>T	ENSP00000469553.2:n.138+612C>T
ENST00000598540.6:c.224-15C>T
ENST00000598664.5:c.51+612C>T	ENSP00000472796.1:n.51+612C>T
ENST00000599243.5:c.139-192C>T	ENSP00000470078.1:n.139-192C>T
ENST00000600836.1:n.323-15C>T
ENST00000623154.1:n.1650C>T
ENST00000698367.1:n.85+612C>T
ENST00000698368.1:c.114+799C>T	ENSP00000513686.1:n.114+799C>T
ENST00000698396.1:c.88-15C>T	ENSP00000513691.1:n.88-15C>T
ENST00000698397.1:c.*221C>T	ENSP00000513692.1:n.*221C>T
ENST00000698398.1:c.205-15C>T	ENSP00000513693.1:n.205-15C>T