Canonical Allele Identifier: CA1619451404
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181550C= , CM000668.2:g.32181550C= GRCh38
NC_000006.11:g.32149327C= , CM000668.1:g.32149327C= GRCh37
NC_000006.10:g.32257305C= NCBI36
NG_029868.1:g.7773G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.991+56G= MANE Select ENSP00000364217.4:n.991+56G=
ENST00000375055.6:c.*3G= ENSP00000364195.2:n.*3G=
ENST00000375065.6:c.178+56G= ENSP00000364206.6:n.178+56G=
ENST00000375067.7:c.836+56G= ENSP00000364208.3:n.836+56G=
ENST00000375069.7:c.1039+56G= ENSP00000364210.4:n.1039+56G=
ENST00000375070.7:c.662-73G= ENSP00000364211.4:n.662-73G=
ENST00000375076.8:c.991+56G= ENSP00000364217.4:n.991+56G=
ENST00000438221.6:c.*3G= ENSP00000387887.2:n.*3G=
ENST00000469940.5:n.86G=
ENST00000473619.5:n.533+56G=
ENST00000484849.5:n.1198+56G=
ENST00000488669.5:n.589G=
ENST00000620802.4:c.283-117G= ENSP00000484081.1:n.283-117G=
NM_001136.4:c.991+56G= NP_001127.1:n.991+56G=
NM_001206929.1:c.1039+56G= NP_001193858.1:n.1039+56G=
NM_001206932.1:c.949+56G= NP_001193861.1:n.949+56G=
NM_001206934.1:c.*3G= NP_001193863.1:n.*3G=
NM_001206936.1:c.995G= NP_001193865.1:p.Trp332=
NM_001206940.1:c.*3G= NP_001193869.1:n.*3G=
NM_001206954.1:c.905G= NP_001193883.1:p.Trp302=
NM_001206966.1:c.*3G= NP_001193895.1:n.*3G=
NM_172197.2:c.836+56G= NP_751947.1:n.836+56G=
NR_038190.1:n.1274+56G=
XM_017010328.2:c.1046G= XP_016865817.1:p.Trp349=
XR_001743189.2:n.1055+56G=
XR_001743190.2:n.1007+56G=
NM_001136.5:c.991+56G= MANE Select NP_001127.1:n.991+56G=
NM_001206932.2:c.949+56G= NP_001193861.1:n.949+56G=
NM_001206936.2:c.995G= NP_001193865.1:p.Trp332=
NM_001206940.2:c.*3G= NP_001193869.1:n.*3G=
NM_001206954.2:c.905G= NP_001193883.1:p.Trp302=
NM_001206966.2:c.*3G= NP_001193895.1:n.*3G=
NM_172197.3:c.836+56G= NP_751947.1:n.836+56G=
NR_038190.2:n.1205+56G=
NM_001206929.2:c.1039+56G= NP_001193858.1:n.1039+56G=
NM_001206934.2:c.*3G= NP_001193863.1:n.*3G=