Canonical Allele Identifier: CA1619451261
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181359T= , CM000668.2:g.32181359T= GRCh38
NC_000006.11:g.32149136T= , CM000668.1:g.32149136T= GRCh37
NC_000006.10:g.32257114T= NCBI36
NG_029868.1:g.7964A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1110A= MANE Select ENSP00000364217.4:p.Gly370=
ENST00000375055.6:c.*30-120A= ENSP00000364195.2:n.*30-120A=
ENST00000375065.6:c.297A= ENSP00000364206.6:p.Gly99=
ENST00000375067.7:c.955A= ENSP00000364208.3:p.Arg319=
ENST00000375069.7:c.1158A= ENSP00000364210.4:p.Gly386=
ENST00000375070.7:c.780A= ENSP00000364211.4:p.Gly260=
ENST00000375076.8:c.1110A= ENSP00000364217.4:p.Gly370=
ENST00000438221.6:c.*30-120A= ENSP00000387887.2:n.*30-120A=
ENST00000469940.5:n.277A=
ENST00000473619.5:n.652A=
ENST00000484849.5:n.1317A=
ENST00000488669.5:n.616-120A=
ENST00000620802.4:c.357A= ENSP00000484081.1:p.Gly119=
NM_001136.4:c.1110A= NP_001127.1:p.Gly370=
NM_001206929.1:c.1158A= NP_001193858.1:p.Gly386=
NM_001206932.1:c.1068A= NP_001193861.1:p.Gly356=
NM_001206934.1:c.*30-120A= NP_001193863.1:n.*30-120A=
NM_001206936.1:c.1022-120A= NP_001193865.1:n.1022-120A=
NM_001206940.1:c.*30-120A= NP_001193869.1:n.*30-120A=
NM_001206954.1:c.932-120A= NP_001193883.1:n.932-120A=
NM_001206966.1:c.*29+165A= NP_001193895.1:n.*29+165A=
NM_172197.2:c.955A= NP_751947.1:p.Arg319=
NR_038190.1:n.1393A=
XM_017010328.2:c.1073-120A= XP_016865817.1:n.1073-120A=
XR_001743189.2:n.1174A=
XR_001743190.2:n.1126A=
NM_001136.5:c.1110A= MANE Select NP_001127.1:p.Gly370=
NM_001206932.2:c.1068A= NP_001193861.1:p.Gly356=
NM_001206936.2:c.1022-120A= NP_001193865.1:n.1022-120A=
NM_001206940.2:c.*30-120A= NP_001193869.1:n.*30-120A=
NM_001206954.2:c.932-120A= NP_001193883.1:n.932-120A=
NM_001206966.2:c.*29+165A= NP_001193895.1:n.*29+165A=
NM_172197.3:c.955A= NP_751947.1:p.Arg319=
NR_038190.2:n.1324A=
NM_001206929.2:c.1158A= NP_001193858.1:p.Gly386=
NM_001206934.2:c.*30-120A= NP_001193863.1:n.*30-120A=