Canonical Allele Identifier: CA363510193
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181434C>T , CM000668.2:g.32181434C>T GRCh38
NC_000006.11:g.32149211C>T , CM000668.1:g.32149211C>T GRCh37
NC_000006.10:g.32257189C>T NCBI36
NG_029868.1:g.7889G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1035G>A MANE Select ENSP00000364217.4:p.Leu345=
ENST00000375055.6:c.*29+90G>A ENSP00000364195.2:n.*29+90G>A
ENST00000375065.6:c.222G>A ENSP00000364206.6:p.Leu74=
ENST00000375067.7:c.880G>A ENSP00000364208.3:p.Gly294Arg
ENST00000375069.7:c.1083G>A ENSP00000364210.4:p.Leu361=
ENST00000375070.7:c.705G>A ENSP00000364211.4:p.Leu235=
ENST00000375076.8:c.1035G>A ENSP00000364217.4:p.Leu345=
ENST00000438221.6:c.*29+90G>A ENSP00000387887.2:n.*29+90G>A
ENST00000469940.5:n.202G>A
ENST00000473619.5:n.577G>A
ENST00000484849.5:n.1242G>A
ENST00000488669.5:n.615+90G>A
ENST00000620802.4:c.283-1G>A ENSP00000484081.1:n.283-1G>A
NM_001136.4:c.1035G>A NP_001127.1:p.Leu345=
NM_001206929.1:c.1083G>A NP_001193858.1:p.Leu361=
NM_001206932.1:c.993G>A NP_001193861.1:p.Leu331=
NM_001206934.1:c.*29+90G>A NP_001193863.1:n.*29+90G>A
NM_001206936.1:c.1021+90G>A NP_001193865.1:n.1021+90G>A
NM_001206940.1:c.*29+90G>A NP_001193869.1:n.*29+90G>A
NM_001206954.1:c.931+90G>A NP_001193883.1:n.931+90G>A
NM_001206966.1:c.*29+90G>A NP_001193895.1:n.*29+90G>A
NM_172197.2:c.880G>A NP_751947.1:p.Gly294Arg
NR_038190.1:n.1318G>A
XM_017010328.2:c.1072+90G>A XP_016865817.1:n.1072+90G>A
XR_001743189.2:n.1099G>A
XR_001743190.2:n.1051G>A
NM_001136.5:c.1035G>A MANE Select NP_001127.1:p.Leu345=
NM_001206932.2:c.993G>A NP_001193861.1:p.Leu331=
NM_001206936.2:c.1021+90G>A NP_001193865.1:n.1021+90G>A
NM_001206940.2:c.*29+90G>A NP_001193869.1:n.*29+90G>A
NM_001206954.2:c.931+90G>A NP_001193883.1:n.931+90G>A
NM_001206966.2:c.*29+90G>A NP_001193895.1:n.*29+90G>A
NM_172197.3:c.880G>A NP_751947.1:p.Gly294Arg
NR_038190.2:n.1249G>A
NM_001206929.2:c.1083G>A NP_001193858.1:p.Leu361=
NM_001206934.2:c.*29+90G>A NP_001193863.1:n.*29+90G>A