Canonical Allele Identifier: CA1619451289
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181393C= , CM000668.2:g.32181393C= GRCh38
NC_000006.11:g.32149170C= , CM000668.1:g.32149170C= GRCh37
NC_000006.10:g.32257148C= NCBI36
NG_029868.1:g.7930G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1076G= MANE Select ENSP00000364217.4:p.Gly359=
ENST00000375055.6:c.*29+131G= ENSP00000364195.2:n.*29+131G=
ENST00000375065.6:c.263G= ENSP00000364206.6:p.Gly88=
ENST00000375067.7:c.921G= ENSP00000364208.3:p.Trp307=
ENST00000375069.7:c.1124G= ENSP00000364210.4:p.Gly375=
ENST00000375070.7:c.746G= ENSP00000364211.4:p.Gly249=
ENST00000375076.8:c.1076G= ENSP00000364217.4:p.Gly359=
ENST00000438221.6:c.*29+131G= ENSP00000387887.2:n.*29+131G=
ENST00000469940.5:n.243G=
ENST00000473619.5:n.618G=
ENST00000484849.5:n.1283G=
ENST00000488669.5:n.615+131G=
ENST00000620802.4:c.323G= ENSP00000484081.1:p.Gly108=
NM_001136.4:c.1076G= NP_001127.1:p.Gly359=
NM_001206929.1:c.1124G= NP_001193858.1:p.Gly375=
NM_001206932.1:c.1034G= NP_001193861.1:p.Gly345=
NM_001206934.1:c.*29+131G= NP_001193863.1:n.*29+131G=
NM_001206936.1:c.1021+131G= NP_001193865.1:n.1021+131G=
NM_001206940.1:c.*29+131G= NP_001193869.1:n.*29+131G=
NM_001206954.1:c.931+131G= NP_001193883.1:n.931+131G=
NM_001206966.1:c.*29+131G= NP_001193895.1:n.*29+131G=
NM_172197.2:c.921G= NP_751947.1:p.Trp307=
NR_038190.1:n.1359G=
XM_017010328.2:c.1072+131G= XP_016865817.1:n.1072+131G=
XR_001743189.2:n.1140G=
XR_001743190.2:n.1092G=
NM_001136.5:c.1076G= MANE Select NP_001127.1:p.Gly359=
NM_001206932.2:c.1034G= NP_001193861.1:p.Gly345=
NM_001206936.2:c.1021+131G= NP_001193865.1:n.1021+131G=
NM_001206940.2:c.*29+131G= NP_001193869.1:n.*29+131G=
NM_001206954.2:c.931+131G= NP_001193883.1:n.931+131G=
NM_001206966.2:c.*29+131G= NP_001193895.1:n.*29+131G=
NM_172197.3:c.921G= NP_751947.1:p.Trp307=
NR_038190.2:n.1290G=
NM_001206929.2:c.1124G= NP_001193858.1:p.Gly375=
NM_001206934.2:c.*29+131G= NP_001193863.1:n.*29+131G=