Canonical Allele Identifier: CA1619451393
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181526T= , CM000668.2:g.32181526T= GRCh38
NC_000006.11:g.32149303T= , CM000668.1:g.32149303T= GRCh37
NC_000006.10:g.32257281T= NCBI36
NG_029868.1:g.7797A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.992-49A= MANE Select ENSP00000364217.4:n.992-49A=
ENST00000375055.6:c.*27A= ENSP00000364195.2:n.*27A=
ENST00000375065.6:c.179-49A= ENSP00000364206.6:n.179-49A=
ENST00000375067.7:c.837-49A= ENSP00000364208.3:n.837-49A=
ENST00000375069.7:c.1040-49A= ENSP00000364210.4:n.1040-49A=
ENST00000375070.7:c.662-49A= ENSP00000364211.4:n.662-49A=
ENST00000375076.8:c.992-49A= ENSP00000364217.4:n.992-49A=
ENST00000438221.6:c.*27A= ENSP00000387887.2:n.*27A=
ENST00000469940.5:n.110A=
ENST00000473619.5:n.534-49A=
ENST00000484849.5:n.1199-49A=
ENST00000488669.5:n.613A=
ENST00000620802.4:c.283-93A= ENSP00000484081.1:n.283-93A=
NM_001136.4:c.992-49A= NP_001127.1:n.992-49A=
NM_001206929.1:c.1040-49A= NP_001193858.1:n.1040-49A=
NM_001206932.1:c.950-49A= NP_001193861.1:n.950-49A=
NM_001206934.1:c.*27A= NP_001193863.1:n.*27A=
NM_001206936.1:c.1019A= NP_001193865.1:p.Asn340=
NM_001206940.1:c.*27A= NP_001193869.1:n.*27A=
NM_001206954.1:c.929A= NP_001193883.1:p.Asn310=
NM_001206966.1:c.*27A= NP_001193895.1:n.*27A=
NM_172197.2:c.837-49A= NP_751947.1:n.837-49A=
NR_038190.1:n.1275-49A=
XM_017010328.2:c.1070A= XP_016865817.1:p.Asn357=
XR_001743189.2:n.1056-49A=
XR_001743190.2:n.1008-49A=
NM_001136.5:c.992-49A= MANE Select NP_001127.1:n.992-49A=
NM_001206932.2:c.950-49A= NP_001193861.1:n.950-49A=
NM_001206936.2:c.1019A= NP_001193865.1:p.Asn340=
NM_001206940.2:c.*27A= NP_001193869.1:n.*27A=
NM_001206954.2:c.929A= NP_001193883.1:p.Asn310=
NM_001206966.2:c.*27A= NP_001193895.1:n.*27A=
NM_172197.3:c.837-49A= NP_751947.1:n.837-49A=
NR_038190.2:n.1206-49A=
NM_001206929.2:c.1040-49A= NP_001193858.1:n.1040-49A=
NM_001206934.2:c.*27A= NP_001193863.1:n.*27A=