Canonical Allele Identifier: CA1619452980
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32183570G= , CM000668.2:g.32183570G= GRCh38
NC_000006.11:g.32151347G= , CM000668.1:g.32151347G= GRCh37
NC_000006.10:g.32259325G= NCBI36
NG_029868.1:g.5753C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.340C= MANE Select ENSP00000364217.4:p.Arg114=
ENST00000375055.6:c.340C= ENSP00000364195.2:p.Arg114=
ENST00000375056.6:c.340C= ENSP00000364196.2:p.Arg114=
ENST00000375065.6:c.-182+388C= ENSP00000364206.6:n.-182+388C=
ENST00000375067.7:c.298C= ENSP00000364208.3:p.Arg100=
ENST00000375069.7:c.340C= ENSP00000364210.4:p.Arg114=
ENST00000375070.7:c.37C= ENSP00000364211.4:p.Arg13=
ENST00000375076.8:c.340C= ENSP00000364217.4:p.Arg114=
ENST00000438221.6:c.340C= ENSP00000387887.2:p.Arg114=
ENST00000450110.5:c.340C= ENSP00000398466.1:p.Arg114=
ENST00000484849.5:n.547C=
ENST00000538695.2:c.340C= ENSP00000445389.1:p.Arg114=
ENST00000620802.4:c.282+58C= ENSP00000484081.1:n.282+58C=
NM_001136.4:c.340C= NP_001127.1:p.Arg114=
NM_001206929.1:c.340C= NP_001193858.1:p.Arg114=
NM_001206932.1:c.298C= NP_001193861.1:p.Arg100=
NM_001206934.1:c.340C= NP_001193863.1:p.Arg114=
NM_001206936.1:c.340C= NP_001193865.1:p.Arg114=
NM_001206940.1:c.340C= NP_001193869.1:p.Arg114=
NM_001206954.1:c.340C= NP_001193883.1:p.Arg114=
NM_001206966.1:c.340C= NP_001193895.1:p.Arg114=
NM_172197.2:c.298C= NP_751947.1:p.Arg100=
NR_038190.1:n.623C=
XM_017010328.2:c.433C= XP_016865817.1:p.Arg145=
XR_001743189.2:n.498C=
XR_001743190.2:n.498C=
NM_001136.5:c.340C= MANE Select NP_001127.1:p.Arg114=
NM_001206932.2:c.298C= NP_001193861.1:p.Arg100=
NM_001206936.2:c.340C= NP_001193865.1:p.Arg114=
NM_001206940.2:c.340C= NP_001193869.1:p.Arg114=
NM_001206954.2:c.340C= NP_001193883.1:p.Arg114=
NM_001206966.2:c.340C= NP_001193895.1:p.Arg114=
NM_172197.3:c.298C= NP_751947.1:p.Arg100=
NR_038190.2:n.554C=
NM_001206929.2:c.340C= NP_001193858.1:p.Arg114=
NM_001206934.2:c.340C= NP_001193863.1:p.Arg114=