Canonical Allele Identifier: CA363510800
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181601C>A , CM000668.2:g.32181601C>A GRCh38
NC_000006.11:g.32149378C>A , CM000668.1:g.32149378C>A GRCh37
NC_000006.10:g.32257356C>A NCBI36
NG_029868.1:g.7722G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.991+5G>T MANE Select ENSP00000364217.4:n.991+5G>T
ENST00000375055.6:c.996G>T ENSP00000364195.2:p.Glu332Asp
ENST00000375065.6:c.178+5G>T ENSP00000364206.6:n.178+5G>T
ENST00000375067.7:c.836+5G>T ENSP00000364208.3:n.836+5G>T
ENST00000375069.7:c.1039+5G>T ENSP00000364210.4:n.1039+5G>T
ENST00000375070.7:c.662-124G>T ENSP00000364211.4:n.662-124G>T
ENST00000375076.8:c.991+5G>T ENSP00000364217.4:n.991+5G>T
ENST00000438221.6:c.1044G>T ENSP00000387887.2:p.Glu348Asp
ENST00000469940.5:n.35G>T
ENST00000473619.5:n.533+5G>T
ENST00000484849.5:n.1198+5G>T
ENST00000488669.5:n.538G>T
ENST00000620802.4:c.283-168G>T ENSP00000484081.1:n.283-168G>T
NM_001136.4:c.991+5G>T NP_001127.1:n.991+5G>T
NM_001206929.1:c.1039+5G>T NP_001193858.1:n.1039+5G>T
NM_001206932.1:c.949+5G>T NP_001193861.1:n.949+5G>T
NM_001206934.1:c.1044G>T NP_001193863.1:p.Glu348Asp
NM_001206936.1:c.944G>T NP_001193865.1:p.Arg315Met
NM_001206940.1:c.996G>T NP_001193869.1:p.Glu332Asp
NM_001206954.1:c.854G>T NP_001193883.1:p.Arg285Met
NM_001206966.1:c.996G>T NP_001193895.1:p.Glu332Asp
NM_172197.2:c.836+5G>T NP_751947.1:n.836+5G>T
NR_038190.1:n.1274+5G>T
XM_017010328.2:c.995G>T XP_016865817.1:p.Arg332Met
XR_001743189.2:n.1055+5G>T
XR_001743190.2:n.1007+5G>T
NM_001136.5:c.991+5G>T MANE Select NP_001127.1:n.991+5G>T
NM_001206932.2:c.949+5G>T NP_001193861.1:n.949+5G>T
NM_001206936.2:c.944G>T NP_001193865.1:p.Arg315Met
NM_001206940.2:c.996G>T NP_001193869.1:p.Glu332Asp
NM_001206954.2:c.854G>T NP_001193883.1:p.Arg285Met
NM_001206966.2:c.996G>T NP_001193895.1:p.Glu332Asp
NM_172197.3:c.836+5G>T NP_751947.1:n.836+5G>T
NR_038190.2:n.1205+5G>T
NM_001206929.2:c.1039+5G>T NP_001193858.1:n.1039+5G>T
NM_001206934.2:c.1044G>T NP_001193863.1:p.Glu348Asp