Canonical Allele Identifier: CA1619451392
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181525A= , CM000668.2:g.32181525A= GRCh38
NC_000006.11:g.32149302A= , CM000668.1:g.32149302A= GRCh37
NC_000006.10:g.32257280A= NCBI36
NG_029868.1:g.7798T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.992-48T= MANE Select ENSP00000364217.4:n.992-48T=
ENST00000375055.6:c.*28T= ENSP00000364195.2:n.*28T=
ENST00000375065.6:c.179-48T= ENSP00000364206.6:n.179-48T=
ENST00000375067.7:c.837-48T= ENSP00000364208.3:n.837-48T=
ENST00000375069.7:c.1040-48T= ENSP00000364210.4:n.1040-48T=
ENST00000375070.7:c.662-48T= ENSP00000364211.4:n.662-48T=
ENST00000375076.8:c.992-48T= ENSP00000364217.4:n.992-48T=
ENST00000438221.6:c.*28T= ENSP00000387887.2:n.*28T=
ENST00000469940.5:n.111T=
ENST00000473619.5:n.534-48T=
ENST00000484849.5:n.1199-48T=
ENST00000488669.5:n.614T=
ENST00000620802.4:c.283-92T= ENSP00000484081.1:n.283-92T=
NM_001136.4:c.992-48T= NP_001127.1:n.992-48T=
NM_001206929.1:c.1040-48T= NP_001193858.1:n.1040-48T=
NM_001206932.1:c.950-48T= NP_001193861.1:n.950-48T=
NM_001206934.1:c.*28T= NP_001193863.1:n.*28T=
NM_001206936.1:c.1020T= NP_001193865.1:p.Asn340=
NM_001206940.1:c.*28T= NP_001193869.1:n.*28T=
NM_001206954.1:c.930T= NP_001193883.1:p.Asn310=
NM_001206966.1:c.*28T= NP_001193895.1:n.*28T=
NM_172197.2:c.837-48T= NP_751947.1:n.837-48T=
NR_038190.1:n.1275-48T=
XM_017010328.2:c.1071T= XP_016865817.1:p.Asn357=
XR_001743189.2:n.1056-48T=
XR_001743190.2:n.1008-48T=
NM_001136.5:c.992-48T= MANE Select NP_001127.1:n.992-48T=
NM_001206932.2:c.950-48T= NP_001193861.1:n.950-48T=
NM_001206936.2:c.1020T= NP_001193865.1:p.Asn340=
NM_001206940.2:c.*28T= NP_001193869.1:n.*28T=
NM_001206954.2:c.930T= NP_001193883.1:p.Asn310=
NM_001206966.2:c.*28T= NP_001193895.1:n.*28T=
NM_172197.3:c.837-48T= NP_751947.1:n.837-48T=
NR_038190.2:n.1206-48T=
NM_001206929.2:c.1040-48T= NP_001193858.1:n.1040-48T=
NM_001206934.2:c.*28T= NP_001193863.1:n.*28T=