Canonical Allele Identifier: CA363510200
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181435A>C , CM000668.2:g.32181435A>C GRCh38
NC_000006.11:g.32149212A>C , CM000668.1:g.32149212A>C GRCh37
NC_000006.10:g.32257190A>C NCBI36
NG_029868.1:g.7888T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1034T>G MANE Select ENSP00000364217.4:p.Leu345Arg
ENST00000375055.6:c.*29+89T>G ENSP00000364195.2:n.*29+89T>G
ENST00000375065.6:c.221T>G ENSP00000364206.6:p.Leu74Arg
ENST00000375067.7:c.879T>G ENSP00000364208.3:p.Pro293=
ENST00000375069.7:c.1082T>G ENSP00000364210.4:p.Leu361Arg
ENST00000375070.7:c.704T>G ENSP00000364211.4:p.Leu235Arg
ENST00000375076.8:c.1034T>G ENSP00000364217.4:p.Leu345Arg
ENST00000438221.6:c.*29+89T>G ENSP00000387887.2:n.*29+89T>G
ENST00000469940.5:n.201T>G
ENST00000473619.5:n.576T>G
ENST00000484849.5:n.1241T>G
ENST00000488669.5:n.615+89T>G
ENST00000620802.4:c.283-2T>G ENSP00000484081.1:n.283-2T>G
NM_001136.4:c.1034T>G NP_001127.1:p.Leu345Arg
NM_001206929.1:c.1082T>G NP_001193858.1:p.Leu361Arg
NM_001206932.1:c.992T>G NP_001193861.1:p.Leu331Arg
NM_001206934.1:c.*29+89T>G NP_001193863.1:n.*29+89T>G
NM_001206936.1:c.1021+89T>G NP_001193865.1:n.1021+89T>G
NM_001206940.1:c.*29+89T>G NP_001193869.1:n.*29+89T>G
NM_001206954.1:c.931+89T>G NP_001193883.1:n.931+89T>G
NM_001206966.1:c.*29+89T>G NP_001193895.1:n.*29+89T>G
NM_172197.2:c.879T>G NP_751947.1:p.Pro293=
NR_038190.1:n.1317T>G
XM_017010328.2:c.1072+89T>G XP_016865817.1:n.1072+89T>G
XR_001743189.2:n.1098T>G
XR_001743190.2:n.1050T>G
NM_001136.5:c.1034T>G MANE Select NP_001127.1:p.Leu345Arg
NM_001206932.2:c.992T>G NP_001193861.1:p.Leu331Arg
NM_001206936.2:c.1021+89T>G NP_001193865.1:n.1021+89T>G
NM_001206940.2:c.*29+89T>G NP_001193869.1:n.*29+89T>G
NM_001206954.2:c.931+89T>G NP_001193883.1:n.931+89T>G
NM_001206966.2:c.*29+89T>G NP_001193895.1:n.*29+89T>G
NM_172197.3:c.879T>G NP_751947.1:p.Pro293=
NR_038190.2:n.1248T>G
NM_001206929.2:c.1082T>G NP_001193858.1:p.Leu361Arg
NM_001206934.2:c.*29+89T>G NP_001193863.1:n.*29+89T>G