Canonical Allele Identifier: CA1619451871
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32182262T= , CM000668.2:g.32182262T= GRCh38
NC_000006.11:g.32150039T= , CM000668.1:g.32150039T= GRCh37
NC_000006.10:g.32258017T= NCBI36
NG_029868.1:g.7061A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.949A= MANE Select ENSP00000364217.4:p.Ser317=
ENST00000375055.6:c.949A= ENSP00000364195.2:p.Ser317=
ENST00000375065.6:c.136A= ENSP00000364206.6:p.Ser46=
ENST00000375067.7:c.809+277A= ENSP00000364208.3:n.809+277A=
ENST00000375069.7:c.997A= ENSP00000364210.4:p.Ser333=
ENST00000375070.7:c.646A= ENSP00000364211.4:p.Ser216=
ENST00000375076.8:c.949A= ENSP00000364217.4:p.Ser317=
ENST00000438221.6:c.997A= ENSP00000387887.2:p.Ser333=
ENST00000473619.5:n.491A=
ENST00000484849.5:n.1156A=
ENST00000488669.5:n.491A=
ENST00000620802.4:c.283-829A= ENSP00000484081.1:n.283-829A=
NM_001136.4:c.949A= NP_001127.1:p.Ser317=
NM_001206929.1:c.997A= NP_001193858.1:p.Ser333=
NM_001206932.1:c.907A= NP_001193861.1:p.Ser303=
NM_001206934.1:c.997A= NP_001193863.1:p.Ser333=
NM_001206936.1:c.897A= NP_001193865.1:p.Ser299=
NM_001206940.1:c.949A= NP_001193869.1:p.Ser317=
NM_001206954.1:c.822+306A= NP_001193883.1:n.822+306A=
NM_001206966.1:c.949A= NP_001193895.1:p.Ser317=
NM_172197.2:c.809+277A= NP_751947.1:n.809+277A=
NR_038190.1:n.1232A=
XM_017010328.2:c.963+306A= XP_016865817.1:n.963+306A=
XR_001743189.2:n.1028+306A=
XR_001743190.2:n.980+306A=
NM_001136.5:c.949A= MANE Select NP_001127.1:p.Ser317=
NM_001206932.2:c.907A= NP_001193861.1:p.Ser303=
NM_001206936.2:c.897A= NP_001193865.1:p.Ser299=
NM_001206940.2:c.949A= NP_001193869.1:p.Ser317=
NM_001206954.2:c.822+306A= NP_001193883.1:n.822+306A=
NM_001206966.2:c.949A= NP_001193895.1:p.Ser317=
NM_172197.3:c.809+277A= NP_751947.1:n.809+277A=
NR_038190.2:n.1163A=
NM_001206929.2:c.997A= NP_001193858.1:p.Ser333=
NM_001206934.2:c.997A= NP_001193863.1:p.Ser333=