Canonical Allele Identifier: CA1619451332
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181450G= , CM000668.2:g.32181450G= GRCh38
NC_000006.11:g.32149227G= , CM000668.1:g.32149227G= GRCh37
NC_000006.10:g.32257205G= NCBI36
NG_029868.1:g.7873C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1019C= MANE Select ENSP00000364217.4:p.Thr340=
ENST00000375055.6:c.*29+74C= ENSP00000364195.2:n.*29+74C=
ENST00000375065.6:c.206C= ENSP00000364206.6:p.Thr69=
ENST00000375067.7:c.864C= ENSP00000364208.3:p.Asn288=
ENST00000375069.7:c.1067C= ENSP00000364210.4:p.Thr356=
ENST00000375070.7:c.689C= ENSP00000364211.4:p.Thr230=
ENST00000375076.8:c.1019C= ENSP00000364217.4:p.Thr340=
ENST00000438221.6:c.*29+74C= ENSP00000387887.2:n.*29+74C=
ENST00000469940.5:n.186C=
ENST00000473619.5:n.561C=
ENST00000484849.5:n.1226C=
ENST00000488669.5:n.615+74C=
ENST00000620802.4:c.283-17C= ENSP00000484081.1:n.283-17C=
NM_001136.4:c.1019C= NP_001127.1:p.Thr340=
NM_001206929.1:c.1067C= NP_001193858.1:p.Thr356=
NM_001206932.1:c.977C= NP_001193861.1:p.Thr326=
NM_001206934.1:c.*29+74C= NP_001193863.1:n.*29+74C=
NM_001206936.1:c.1021+74C= NP_001193865.1:n.1021+74C=
NM_001206940.1:c.*29+74C= NP_001193869.1:n.*29+74C=
NM_001206954.1:c.931+74C= NP_001193883.1:n.931+74C=
NM_001206966.1:c.*29+74C= NP_001193895.1:n.*29+74C=
NM_172197.2:c.864C= NP_751947.1:p.Asn288=
NR_038190.1:n.1302C=
XM_017010328.2:c.1072+74C= XP_016865817.1:n.1072+74C=
XR_001743189.2:n.1083C=
XR_001743190.2:n.1035C=
NM_001136.5:c.1019C= MANE Select NP_001127.1:p.Thr340=
NM_001206932.2:c.977C= NP_001193861.1:p.Thr326=
NM_001206936.2:c.1021+74C= NP_001193865.1:n.1021+74C=
NM_001206940.2:c.*29+74C= NP_001193869.1:n.*29+74C=
NM_001206954.2:c.931+74C= NP_001193883.1:n.931+74C=
NM_001206966.2:c.*29+74C= NP_001193895.1:n.*29+74C=
NM_172197.3:c.864C= NP_751947.1:p.Asn288=
NR_038190.2:n.1233C=
NM_001206929.2:c.1067C= NP_001193858.1:p.Thr356=
NM_001206934.2:c.*29+74C= NP_001193863.1:n.*29+74C=