Canonical Allele Identifier: CA1619451284
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181387A= , CM000668.2:g.32181387A= GRCh38
NC_000006.11:g.32149164A= , CM000668.1:g.32149164A= GRCh37
NC_000006.10:g.32257142A= NCBI36
NG_029868.1:g.7936T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1082T= MANE Select ENSP00000364217.4:p.Ile361=
ENST00000375055.6:c.*29+137T= ENSP00000364195.2:n.*29+137T=
ENST00000375065.6:c.269T= ENSP00000364206.6:p.Ile90=
ENST00000375067.7:c.927T= ENSP00000364208.3:p.His309=
ENST00000375069.7:c.1130T= ENSP00000364210.4:p.Ile377=
ENST00000375070.7:c.752T= ENSP00000364211.4:p.Ile251=
ENST00000375076.8:c.1082T= ENSP00000364217.4:p.Ile361=
ENST00000438221.6:c.*29+137T= ENSP00000387887.2:n.*29+137T=
ENST00000469940.5:n.249T=
ENST00000473619.5:n.624T=
ENST00000484849.5:n.1289T=
ENST00000488669.5:n.615+137T=
ENST00000620802.4:c.329T= ENSP00000484081.1:p.Ile110=
NM_001136.4:c.1082T= NP_001127.1:p.Ile361=
NM_001206929.1:c.1130T= NP_001193858.1:p.Ile377=
NM_001206932.1:c.1040T= NP_001193861.1:p.Ile347=
NM_001206934.1:c.*29+137T= NP_001193863.1:n.*29+137T=
NM_001206936.1:c.1021+137T= NP_001193865.1:n.1021+137T=
NM_001206940.1:c.*29+137T= NP_001193869.1:n.*29+137T=
NM_001206954.1:c.931+137T= NP_001193883.1:n.931+137T=
NM_001206966.1:c.*29+137T= NP_001193895.1:n.*29+137T=
NM_172197.2:c.927T= NP_751947.1:p.His309=
NR_038190.1:n.1365T=
XM_017010328.2:c.1072+137T= XP_016865817.1:n.1072+137T=
XR_001743189.2:n.1146T=
XR_001743190.2:n.1098T=
NM_001136.5:c.1082T= MANE Select NP_001127.1:p.Ile361=
NM_001206932.2:c.1040T= NP_001193861.1:p.Ile347=
NM_001206936.2:c.1021+137T= NP_001193865.1:n.1021+137T=
NM_001206940.2:c.*29+137T= NP_001193869.1:n.*29+137T=
NM_001206954.2:c.931+137T= NP_001193883.1:n.931+137T=
NM_001206966.2:c.*29+137T= NP_001193895.1:n.*29+137T=
NM_172197.3:c.927T= NP_751947.1:p.His309=
NR_038190.2:n.1296T=
NM_001206929.2:c.1130T= NP_001193858.1:p.Ile377=
NM_001206934.2:c.*29+137T= NP_001193863.1:n.*29+137T=