Canonical Allele Identifier: CA363510289
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181461T>C , CM000668.2:g.32181461T>C GRCh38
NC_000006.11:g.32149238T>C , CM000668.1:g.32149238T>C GRCh37
NC_000006.10:g.32257216T>C NCBI36
NG_029868.1:g.7862A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1008A>G MANE Select ENSP00000364217.4:p.Ser336=
ENST00000375055.6:c.*29+63A>G ENSP00000364195.2:n.*29+63A>G
ENST00000375065.6:c.195A>G ENSP00000364206.6:p.Ser65=
ENST00000375067.7:c.853A>G ENSP00000364208.3:p.Arg285Gly
ENST00000375069.7:c.1056A>G ENSP00000364210.4:p.Ser352=
ENST00000375070.7:c.678A>G ENSP00000364211.4:p.Ser226=
ENST00000375076.8:c.1008A>G ENSP00000364217.4:p.Ser336=
ENST00000438221.6:c.*29+63A>G ENSP00000387887.2:n.*29+63A>G
ENST00000469940.5:n.175A>G
ENST00000473619.5:n.550A>G
ENST00000484849.5:n.1215A>G
ENST00000488669.5:n.615+63A>G
ENST00000620802.4:c.283-28A>G ENSP00000484081.1:n.283-28A>G
NM_001136.4:c.1008A>G NP_001127.1:p.Ser336=
NM_001206929.1:c.1056A>G NP_001193858.1:p.Ser352=
NM_001206932.1:c.966A>G NP_001193861.1:p.Ser322=
NM_001206934.1:c.*29+63A>G NP_001193863.1:n.*29+63A>G
NM_001206936.1:c.1021+63A>G NP_001193865.1:n.1021+63A>G
NM_001206940.1:c.*29+63A>G NP_001193869.1:n.*29+63A>G
NM_001206954.1:c.931+63A>G NP_001193883.1:n.931+63A>G
NM_001206966.1:c.*29+63A>G NP_001193895.1:n.*29+63A>G
NM_172197.2:c.853A>G NP_751947.1:p.Arg285Gly
NR_038190.1:n.1291A>G
XM_017010328.2:c.1072+63A>G XP_016865817.1:n.1072+63A>G
XR_001743189.2:n.1072A>G
XR_001743190.2:n.1024A>G
NM_001136.5:c.1008A>G MANE Select NP_001127.1:p.Ser336=
NM_001206932.2:c.966A>G NP_001193861.1:p.Ser322=
NM_001206936.2:c.1021+63A>G NP_001193865.1:n.1021+63A>G
NM_001206940.2:c.*29+63A>G NP_001193869.1:n.*29+63A>G
NM_001206954.2:c.931+63A>G NP_001193883.1:n.931+63A>G
NM_001206966.2:c.*29+63A>G NP_001193895.1:n.*29+63A>G
NM_172197.3:c.853A>G NP_751947.1:p.Arg285Gly
NR_038190.2:n.1222A>G
NM_001206929.2:c.1056A>G NP_001193858.1:p.Ser352=
NM_001206934.2:c.*29+63A>G NP_001193863.1:n.*29+63A>G