Canonical Allele Identifier: CA1619451458
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181625G= , CM000668.2:g.32181625G= GRCh38
NC_000006.11:g.32149402G= , CM000668.1:g.32149402G= GRCh37
NC_000006.10:g.32257380G= NCBI36
NG_029868.1:g.7698C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.972C= MANE Select ENSP00000364217.4:p.Gly324=
ENST00000375055.6:c.972C= ENSP00000364195.2:p.Gly324=
ENST00000375065.6:c.159C= ENSP00000364206.6:p.Gly53=
ENST00000375067.7:c.817C= ENSP00000364208.3:p.Arg273=
ENST00000375069.7:c.1020C= ENSP00000364210.4:p.Gly340=
ENST00000375070.7:c.662-148C= ENSP00000364211.4:n.662-148C=
ENST00000375076.8:c.972C= ENSP00000364217.4:p.Gly324=
ENST00000438221.6:c.1020C= ENSP00000387887.2:p.Gly340=
ENST00000469940.5:n.11C=
ENST00000473619.5:n.514C=
ENST00000484849.5:n.1179C=
ENST00000488669.5:n.514C=
ENST00000620802.4:c.283-192C= ENSP00000484081.1:n.283-192C=
NM_001136.4:c.972C= NP_001127.1:p.Gly324=
NM_001206929.1:c.1020C= NP_001193858.1:p.Gly340=
NM_001206932.1:c.930C= NP_001193861.1:p.Gly310=
NM_001206934.1:c.1020C= NP_001193863.1:p.Gly340=
NM_001206936.1:c.920C= NP_001193865.1:p.Ala307=
NM_001206940.1:c.972C= NP_001193869.1:p.Gly324=
NM_001206954.1:c.830C= NP_001193883.1:p.Ala277=
NM_001206966.1:c.972C= NP_001193895.1:p.Gly324=
NM_172197.2:c.817C= NP_751947.1:p.Arg273=
NR_038190.1:n.1255C=
XM_017010328.2:c.971C= XP_016865817.1:p.Ala324=
XR_001743189.2:n.1036C=
XR_001743190.2:n.988C=
NM_001136.5:c.972C= MANE Select NP_001127.1:p.Gly324=
NM_001206932.2:c.930C= NP_001193861.1:p.Gly310=
NM_001206936.2:c.920C= NP_001193865.1:p.Ala307=
NM_001206940.2:c.972C= NP_001193869.1:p.Gly324=
NM_001206954.2:c.830C= NP_001193883.1:p.Ala277=
NM_001206966.2:c.972C= NP_001193895.1:p.Gly324=
NM_172197.3:c.817C= NP_751947.1:p.Arg273=
NR_038190.2:n.1186C=
NM_001206929.2:c.1020C= NP_001193858.1:p.Gly340=
NM_001206934.2:c.1020C= NP_001193863.1:p.Gly340=