Canonical Allele Identifier: CA1619451256
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181351C= , CM000668.2:g.32181351C= GRCh38
NC_000006.11:g.32149128C= , CM000668.1:g.32149128C= GRCh37
NC_000006.10:g.32257106C= NCBI36
NG_029868.1:g.7972G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1118G= MANE Select ENSP00000364217.4:p.Arg373=
ENST00000375055.6:c.*30-112G= ENSP00000364195.2:n.*30-112G=
ENST00000375065.6:c.305G= ENSP00000364206.6:p.Arg102=
ENST00000375067.7:c.963G= ENSP00000364208.3:p.Glu321=
ENST00000375069.7:c.1166G= ENSP00000364210.4:p.Arg389=
ENST00000375070.7:c.788G= ENSP00000364211.4:p.Arg263=
ENST00000375076.8:c.1118G= ENSP00000364217.4:p.Arg373=
ENST00000438221.6:c.*30-112G= ENSP00000387887.2:n.*30-112G=
ENST00000469940.5:n.285G=
ENST00000473619.5:n.660G=
ENST00000484849.5:n.1325G=
ENST00000488669.5:n.616-112G=
ENST00000620802.4:c.365G= ENSP00000484081.1:p.Arg122=
NM_001136.4:c.1118G= NP_001127.1:p.Arg373=
NM_001206929.1:c.1166G= NP_001193858.1:p.Arg389=
NM_001206932.1:c.1076G= NP_001193861.1:p.Arg359=
NM_001206934.1:c.*30-112G= NP_001193863.1:n.*30-112G=
NM_001206936.1:c.1022-112G= NP_001193865.1:n.1022-112G=
NM_001206940.1:c.*30-112G= NP_001193869.1:n.*30-112G=
NM_001206954.1:c.932-112G= NP_001193883.1:n.932-112G=
NM_001206966.1:c.*29+173G= NP_001193895.1:n.*29+173G=
NM_172197.2:c.963G= NP_751947.1:p.Glu321=
NR_038190.1:n.1401G=
XM_017010328.2:c.1073-112G= XP_016865817.1:n.1073-112G=
XR_001743189.2:n.1182G=
XR_001743190.2:n.1134G=
NM_001136.5:c.1118G= MANE Select NP_001127.1:p.Arg373=
NM_001206932.2:c.1076G= NP_001193861.1:p.Arg359=
NM_001206936.2:c.1022-112G= NP_001193865.1:n.1022-112G=
NM_001206940.2:c.*30-112G= NP_001193869.1:n.*30-112G=
NM_001206954.2:c.932-112G= NP_001193883.1:n.932-112G=
NM_001206966.2:c.*29+173G= NP_001193895.1:n.*29+173G=
NM_172197.3:c.963G= NP_751947.1:p.Glu321=
NR_038190.2:n.1332G=
NM_001206929.2:c.1166G= NP_001193858.1:p.Arg389=
NM_001206934.2:c.*30-112G= NP_001193863.1:n.*30-112G=