Canonical Allele Identifier: CA1619451260
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181358C= , CM000668.2:g.32181358C= GRCh38
NC_000006.11:g.32149135C= , CM000668.1:g.32149135C= GRCh37
NC_000006.10:g.32257113C= NCBI36
NG_029868.1:g.7965G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1111G= MANE Select ENSP00000364217.4:p.Glu371=
ENST00000375055.6:c.*30-119G= ENSP00000364195.2:n.*30-119G=
ENST00000375065.6:c.298G= ENSP00000364206.6:p.Glu100=
ENST00000375067.7:c.956G= ENSP00000364208.3:p.Arg319=
ENST00000375069.7:c.1159G= ENSP00000364210.4:p.Glu387=
ENST00000375070.7:c.781G= ENSP00000364211.4:p.Glu261=
ENST00000375076.8:c.1111G= ENSP00000364217.4:p.Glu371=
ENST00000438221.6:c.*30-119G= ENSP00000387887.2:n.*30-119G=
ENST00000469940.5:n.278G=
ENST00000473619.5:n.653G=
ENST00000484849.5:n.1318G=
ENST00000488669.5:n.616-119G=
ENST00000620802.4:c.358G= ENSP00000484081.1:p.Glu120=
NM_001136.4:c.1111G= NP_001127.1:p.Glu371=
NM_001206929.1:c.1159G= NP_001193858.1:p.Glu387=
NM_001206932.1:c.1069G= NP_001193861.1:p.Glu357=
NM_001206934.1:c.*30-119G= NP_001193863.1:n.*30-119G=
NM_001206936.1:c.1022-119G= NP_001193865.1:n.1022-119G=
NM_001206940.1:c.*30-119G= NP_001193869.1:n.*30-119G=
NM_001206954.1:c.932-119G= NP_001193883.1:n.932-119G=
NM_001206966.1:c.*29+166G= NP_001193895.1:n.*29+166G=
NM_172197.2:c.956G= NP_751947.1:p.Arg319=
NR_038190.1:n.1394G=
XM_017010328.2:c.1073-119G= XP_016865817.1:n.1073-119G=
XR_001743189.2:n.1175G=
XR_001743190.2:n.1127G=
NM_001136.5:c.1111G= MANE Select NP_001127.1:p.Glu371=
NM_001206932.2:c.1069G= NP_001193861.1:p.Glu357=
NM_001206936.2:c.1022-119G= NP_001193865.1:n.1022-119G=
NM_001206940.2:c.*30-119G= NP_001193869.1:n.*30-119G=
NM_001206954.2:c.932-119G= NP_001193883.1:n.932-119G=
NM_001206966.2:c.*29+166G= NP_001193895.1:n.*29+166G=
NM_172197.3:c.956G= NP_751947.1:p.Arg319=
NR_038190.2:n.1325G=
NM_001206929.2:c.1159G= NP_001193858.1:p.Glu387=
NM_001206934.2:c.*30-119G= NP_001193863.1:n.*30-119G=