Canonical Allele Identifier: CA363511016
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181626C>T , CM000668.2:g.32181626C>T GRCh38
NC_000006.11:g.32149403C>T , CM000668.1:g.32149403C>T GRCh37
NC_000006.10:g.32257381C>T NCBI36
NG_029868.1:g.7697G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.971G>A MANE Select ENSP00000364217.4:p.Gly324Asp
ENST00000375055.6:c.971G>A ENSP00000364195.2:p.Gly324Asp
ENST00000375065.6:c.158G>A ENSP00000364206.6:p.Gly53Asp
ENST00000375067.7:c.816G>A ENSP00000364208.3:p.Arg272=
ENST00000375069.7:c.1019G>A ENSP00000364210.4:p.Gly340Asp
ENST00000375070.7:c.662-149G>A ENSP00000364211.4:n.662-149G>A
ENST00000375076.8:c.971G>A ENSP00000364217.4:p.Gly324Asp
ENST00000438221.6:c.1019G>A ENSP00000387887.2:p.Gly340Asp
ENST00000469940.5:n.10G>A
ENST00000473619.5:n.513G>A
ENST00000484849.5:n.1178G>A
ENST00000488669.5:n.513G>A
ENST00000620802.4:c.283-193G>A ENSP00000484081.1:n.283-193G>A
NM_001136.4:c.971G>A NP_001127.1:p.Gly324Asp
NM_001206929.1:c.1019G>A NP_001193858.1:p.Gly340Asp
NM_001206932.1:c.929G>A NP_001193861.1:p.Gly310Asp
NM_001206934.1:c.1019G>A NP_001193863.1:p.Gly340Asp
NM_001206936.1:c.919G>A NP_001193865.1:p.Ala307Thr
NM_001206940.1:c.971G>A NP_001193869.1:p.Gly324Asp
NM_001206954.1:c.829G>A NP_001193883.1:p.Ala277Thr
NM_001206966.1:c.971G>A NP_001193895.1:p.Gly324Asp
NM_172197.2:c.816G>A NP_751947.1:p.Arg272=
NR_038190.1:n.1254G>A
XM_017010328.2:c.970G>A XP_016865817.1:p.Ala324Thr
XR_001743189.2:n.1035G>A
XR_001743190.2:n.987G>A
NM_001136.5:c.971G>A MANE Select NP_001127.1:p.Gly324Asp
NM_001206932.2:c.929G>A NP_001193861.1:p.Gly310Asp
NM_001206936.2:c.919G>A NP_001193865.1:p.Ala307Thr
NM_001206940.2:c.971G>A NP_001193869.1:p.Gly324Asp
NM_001206954.2:c.829G>A NP_001193883.1:p.Ala277Thr
NM_001206966.2:c.971G>A NP_001193895.1:p.Gly324Asp
NM_172197.3:c.816G>A NP_751947.1:p.Arg272=
NR_038190.2:n.1185G>A
NM_001206929.2:c.1019G>A NP_001193858.1:p.Gly340Asp
NM_001206934.2:c.1019G>A NP_001193863.1:p.Gly340Asp