Canonical Allele Identifier: CA1619451877
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32182270C= , CM000668.2:g.32182270C= GRCh38
NC_000006.11:g.32150047C= , CM000668.1:g.32150047C= GRCh37
NC_000006.10:g.32258025C= NCBI36
NG_029868.1:g.7053G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.941G= MANE Select ENSP00000364217.4:p.Arg314=
ENST00000375055.6:c.941G= ENSP00000364195.2:p.Arg314=
ENST00000375065.6:c.128G= ENSP00000364206.6:p.Arg43=
ENST00000375067.7:c.809+269G= ENSP00000364208.3:n.809+269G=
ENST00000375069.7:c.989G= ENSP00000364210.4:p.Arg330=
ENST00000375070.7:c.638G= ENSP00000364211.4:p.Arg213=
ENST00000375076.8:c.941G= ENSP00000364217.4:p.Arg314=
ENST00000438221.6:c.989G= ENSP00000387887.2:p.Arg330=
ENST00000473619.5:n.483G=
ENST00000484849.5:n.1148G=
ENST00000488669.5:n.483G=
ENST00000620802.4:c.283-837G= ENSP00000484081.1:n.283-837G=
NM_001136.4:c.941G= NP_001127.1:p.Arg314=
NM_001206929.1:c.989G= NP_001193858.1:p.Arg330=
NM_001206932.1:c.899G= NP_001193861.1:p.Arg300=
NM_001206934.1:c.989G= NP_001193863.1:p.Arg330=
NM_001206936.1:c.889G= NP_001193865.1:p.Val297=
NM_001206940.1:c.941G= NP_001193869.1:p.Arg314=
NM_001206954.1:c.822+298G= NP_001193883.1:n.822+298G=
NM_001206966.1:c.941G= NP_001193895.1:p.Arg314=
NM_172197.2:c.809+269G= NP_751947.1:n.809+269G=
NR_038190.1:n.1224G=
XM_017010328.2:c.963+298G= XP_016865817.1:n.963+298G=
XR_001743189.2:n.1028+298G=
XR_001743190.2:n.980+298G=
NM_001136.5:c.941G= MANE Select NP_001127.1:p.Arg314=
NM_001206932.2:c.899G= NP_001193861.1:p.Arg300=
NM_001206936.2:c.889G= NP_001193865.1:p.Val297=
NM_001206940.2:c.941G= NP_001193869.1:p.Arg314=
NM_001206954.2:c.822+298G= NP_001193883.1:n.822+298G=
NM_001206966.2:c.941G= NP_001193895.1:p.Arg314=
NM_172197.3:c.809+269G= NP_751947.1:n.809+269G=
NR_038190.2:n.1155G=
NM_001206929.2:c.989G= NP_001193858.1:p.Arg330=
NM_001206934.2:c.989G= NP_001193863.1:p.Arg330=