Canonical Allele Identifier: CA1619451882
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32182272G= , CM000668.2:g.32182272G= GRCh38
NC_000006.11:g.32150049G= , CM000668.1:g.32150049G= GRCh37
NC_000006.10:g.32258027G= NCBI36
NG_029868.1:g.7051C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.939C= MANE Select ENSP00000364217.4:p.Ser313=
ENST00000375055.6:c.939C= ENSP00000364195.2:p.Ser313=
ENST00000375065.6:c.126C= ENSP00000364206.6:p.Ser42=
ENST00000375067.7:c.809+267C= ENSP00000364208.3:n.809+267C=
ENST00000375069.7:c.987C= ENSP00000364210.4:p.Ser329=
ENST00000375070.7:c.636C= ENSP00000364211.4:p.Ser212=
ENST00000375076.8:c.939C= ENSP00000364217.4:p.Ser313=
ENST00000438221.6:c.987C= ENSP00000387887.2:p.Ser329=
ENST00000473619.5:n.481C=
ENST00000484849.5:n.1146C=
ENST00000488669.5:n.481C=
ENST00000620802.4:c.283-839C= ENSP00000484081.1:n.283-839C=
NM_001136.4:c.939C= NP_001127.1:p.Ser313=
NM_001206929.1:c.987C= NP_001193858.1:p.Ser329=
NM_001206932.1:c.897C= NP_001193861.1:p.Ser299=
NM_001206934.1:c.987C= NP_001193863.1:p.Ser329=
NM_001206936.1:c.887C= NP_001193865.1:p.Ala296=
NM_001206940.1:c.939C= NP_001193869.1:p.Ser313=
NM_001206954.1:c.822+296C= NP_001193883.1:n.822+296C=
NM_001206966.1:c.939C= NP_001193895.1:p.Ser313=
NM_172197.2:c.809+267C= NP_751947.1:n.809+267C=
NR_038190.1:n.1222C=
XM_017010328.2:c.963+296C= XP_016865817.1:n.963+296C=
XR_001743189.2:n.1028+296C=
XR_001743190.2:n.980+296C=
NM_001136.5:c.939C= MANE Select NP_001127.1:p.Ser313=
NM_001206932.2:c.897C= NP_001193861.1:p.Ser299=
NM_001206936.2:c.887C= NP_001193865.1:p.Ala296=
NM_001206940.2:c.939C= NP_001193869.1:p.Ser313=
NM_001206954.2:c.822+296C= NP_001193883.1:n.822+296C=
NM_001206966.2:c.939C= NP_001193895.1:p.Ser313=
NM_172197.3:c.809+267C= NP_751947.1:n.809+267C=
NR_038190.2:n.1153C=
NM_001206929.2:c.987C= NP_001193858.1:p.Ser329=
NM_001206934.2:c.987C= NP_001193863.1:p.Ser329=