Canonical Allele Identifier: CA1619451274
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181369T= , CM000668.2:g.32181369T= GRCh38
NC_000006.11:g.32149146T= , CM000668.1:g.32149146T= GRCh37
NC_000006.10:g.32257124T= NCBI36
NG_029868.1:g.7954A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1100A= MANE Select ENSP00000364217.4:p.Gln367=
ENST00000375055.6:c.*30-130A= ENSP00000364195.2:n.*30-130A=
ENST00000375065.6:c.287A= ENSP00000364206.6:p.Gln96=
ENST00000375067.7:c.945A= ENSP00000364208.3:p.Ala315=
ENST00000375069.7:c.1148A= ENSP00000364210.4:p.Gln383=
ENST00000375070.7:c.770A= ENSP00000364211.4:p.Gln257=
ENST00000375076.8:c.1100A= ENSP00000364217.4:p.Gln367=
ENST00000438221.6:c.*30-130A= ENSP00000387887.2:n.*30-130A=
ENST00000469940.5:n.267A=
ENST00000473619.5:n.642A=
ENST00000484849.5:n.1307A=
ENST00000488669.5:n.616-130A=
ENST00000620802.4:c.347A= ENSP00000484081.1:p.Gln116=
NM_001136.4:c.1100A= NP_001127.1:p.Gln367=
NM_001206929.1:c.1148A= NP_001193858.1:p.Gln383=
NM_001206932.1:c.1058A= NP_001193861.1:p.Gln353=
NM_001206934.1:c.*30-130A= NP_001193863.1:n.*30-130A=
NM_001206936.1:c.1022-130A= NP_001193865.1:n.1022-130A=
NM_001206940.1:c.*30-130A= NP_001193869.1:n.*30-130A=
NM_001206954.1:c.932-130A= NP_001193883.1:n.932-130A=
NM_001206966.1:c.*29+155A= NP_001193895.1:n.*29+155A=
NM_172197.2:c.945A= NP_751947.1:p.Ala315=
NR_038190.1:n.1383A=
XM_017010328.2:c.1073-130A= XP_016865817.1:n.1073-130A=
XR_001743189.2:n.1164A=
XR_001743190.2:n.1116A=
NM_001136.5:c.1100A= MANE Select NP_001127.1:p.Gln367=
NM_001206932.2:c.1058A= NP_001193861.1:p.Gln353=
NM_001206936.2:c.1022-130A= NP_001193865.1:n.1022-130A=
NM_001206940.2:c.*30-130A= NP_001193869.1:n.*30-130A=
NM_001206954.2:c.932-130A= NP_001193883.1:n.932-130A=
NM_001206966.2:c.*29+155A= NP_001193895.1:n.*29+155A=
NM_172197.3:c.945A= NP_751947.1:p.Ala315=
NR_038190.2:n.1314A=
NM_001206929.2:c.1148A= NP_001193858.1:p.Gln383=
NM_001206934.2:c.*30-130A= NP_001193863.1:n.*30-130A=