Canonical Allele Identifier: CA1619451290
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181396A= , CM000668.2:g.32181396A= GRCh38
NC_000006.11:g.32149173A= , CM000668.1:g.32149173A= GRCh37
NC_000006.10:g.32257151A= NCBI36
NG_029868.1:g.7927T=

Transcript Alleles

HGVS Amino-acid change
ENST00000375076.9:c.1073T= MANE Select ENSP00000364217.4:p.Ile358=
ENST00000375055.6:c.*29+128T= ENSP00000364195.2:n.*29+128T=
ENST00000375065.6:c.260T= ENSP00000364206.6:p.Ile87=
ENST00000375067.7:c.918T= ENSP00000364208.3:p.His306=
ENST00000375069.7:c.1121T= ENSP00000364210.4:p.Ile374=
ENST00000375070.7:c.743T= ENSP00000364211.4:p.Ile248=
ENST00000375076.8:c.1073T= ENSP00000364217.4:p.Ile358=
ENST00000438221.6:c.*29+128T= ENSP00000387887.2:n.*29+128T=
ENST00000469940.5:n.240T=
ENST00000473619.5:n.615T=
ENST00000484849.5:n.1280T=
ENST00000488669.5:n.615+128T=
ENST00000620802.4:c.320T= ENSP00000484081.1:p.Ile107=
NM_001136.4:c.1073T= NP_001127.1:p.Ile358=
NM_001206929.1:c.1121T= NP_001193858.1:p.Ile374=
NM_001206932.1:c.1031T= NP_001193861.1:p.Ile344=
NM_001206934.1:c.*29+128T= NP_001193863.1:n.*29+128T=
NM_001206936.1:c.1021+128T= NP_001193865.1:n.1021+128T=
NM_001206940.1:c.*29+128T= NP_001193869.1:n.*29+128T=
NM_001206954.1:c.931+128T= NP_001193883.1:n.931+128T=
NM_001206966.1:c.*29+128T= NP_001193895.1:n.*29+128T=
NM_172197.2:c.918T= NP_751947.1:p.His306=
NR_038190.1:n.1356T=
XM_017010328.2:c.1072+128T= XP_016865817.1:n.1072+128T=
XR_001743189.2:n.1137T=
XR_001743190.2:n.1089T=
NM_001136.5:c.1073T= MANE Select NP_001127.1:p.Ile358=
NM_001206932.2:c.1031T= NP_001193861.1:p.Ile344=
NM_001206936.2:c.1021+128T= NP_001193865.1:n.1021+128T=
NM_001206940.2:c.*29+128T= NP_001193869.1:n.*29+128T=
NM_001206954.2:c.931+128T= NP_001193883.1:n.931+128T=
NM_001206966.2:c.*29+128T= NP_001193895.1:n.*29+128T=
NM_172197.3:c.918T= NP_751947.1:p.His306=
NR_038190.2:n.1287T=
NM_001206929.2:c.1121T= NP_001193858.1:p.Ile374=
NM_001206934.2:c.*29+128T= NP_001193863.1:n.*29+128T=