Canonical Allele Identifier: CA1619451302
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181414C= , CM000668.2:g.32181414C= GRCh38
NC_000006.11:g.32149191C= , CM000668.1:g.32149191C= GRCh37
NC_000006.10:g.32257169C= NCBI36
NG_029868.1:g.7909G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1055G= MANE Select ENSP00000364217.4:p.Gly352=
ENST00000375055.6:c.*29+110G= ENSP00000364195.2:n.*29+110G=
ENST00000375065.6:c.242G= ENSP00000364206.6:p.Gly81=
ENST00000375067.7:c.900G= ENSP00000364208.3:p.Gly300=
ENST00000375069.7:c.1103G= ENSP00000364210.4:p.Gly368=
ENST00000375070.7:c.725G= ENSP00000364211.4:p.Gly242=
ENST00000375076.8:c.1055G= ENSP00000364217.4:p.Gly352=
ENST00000438221.6:c.*29+110G= ENSP00000387887.2:n.*29+110G=
ENST00000469940.5:n.222G=
ENST00000473619.5:n.597G=
ENST00000484849.5:n.1262G=
ENST00000488669.5:n.615+110G=
ENST00000620802.4:c.302G= ENSP00000484081.1:p.Gly101=
NM_001136.4:c.1055G= NP_001127.1:p.Gly352=
NM_001206929.1:c.1103G= NP_001193858.1:p.Gly368=
NM_001206932.1:c.1013G= NP_001193861.1:p.Gly338=
NM_001206934.1:c.*29+110G= NP_001193863.1:n.*29+110G=
NM_001206936.1:c.1021+110G= NP_001193865.1:n.1021+110G=
NM_001206940.1:c.*29+110G= NP_001193869.1:n.*29+110G=
NM_001206954.1:c.931+110G= NP_001193883.1:n.931+110G=
NM_001206966.1:c.*29+110G= NP_001193895.1:n.*29+110G=
NM_172197.2:c.900G= NP_751947.1:p.Gly300=
NR_038190.1:n.1338G=
XM_017010328.2:c.1072+110G= XP_016865817.1:n.1072+110G=
XR_001743189.2:n.1119G=
XR_001743190.2:n.1071G=
NM_001136.5:c.1055G= MANE Select NP_001127.1:p.Gly352=
NM_001206932.2:c.1013G= NP_001193861.1:p.Gly338=
NM_001206936.2:c.1021+110G= NP_001193865.1:n.1021+110G=
NM_001206940.2:c.*29+110G= NP_001193869.1:n.*29+110G=
NM_001206954.2:c.931+110G= NP_001193883.1:n.931+110G=
NM_001206966.2:c.*29+110G= NP_001193895.1:n.*29+110G=
NM_172197.3:c.900G= NP_751947.1:p.Gly300=
NR_038190.2:n.1269G=
NM_001206929.2:c.1103G= NP_001193858.1:p.Gly368=
NM_001206934.2:c.*29+110G= NP_001193863.1:n.*29+110G=