Canonical Allele Identifier: CA1619451295
Gene: AGER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181403G= , CM000668.2:g.32181403G= GRCh38
NC_000006.11:g.32149180G= , CM000668.1:g.32149180G= GRCh37
NC_000006.10:g.32257158G= NCBI36
NG_029868.1:g.7920C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1066C= MANE Select ENSP00000364217.4:p.Leu356=
ENST00000375055.6:c.*29+121C= ENSP00000364195.2:n.*29+121C=
ENST00000375065.6:c.253C= ENSP00000364206.6:p.Leu85=
ENST00000375067.7:c.911C= ENSP00000364208.3:p.Pro304=
ENST00000375069.7:c.1114C= ENSP00000364210.4:p.Leu372=
ENST00000375070.7:c.736C= ENSP00000364211.4:p.Leu246=
ENST00000375076.8:c.1066C= ENSP00000364217.4:p.Leu356=
ENST00000438221.6:c.*29+121C= ENSP00000387887.2:n.*29+121C=
ENST00000469940.5:n.233C=
ENST00000473619.5:n.608C=
ENST00000484849.5:n.1273C=
ENST00000488669.5:n.615+121C=
ENST00000620802.4:c.313C= ENSP00000484081.1:p.Leu105=
NM_001136.4:c.1066C= NP_001127.1:p.Leu356=
NM_001206929.1:c.1114C= NP_001193858.1:p.Leu372=
NM_001206932.1:c.1024C= NP_001193861.1:p.Leu342=
NM_001206934.1:c.*29+121C= NP_001193863.1:n.*29+121C=
NM_001206936.1:c.1021+121C= NP_001193865.1:n.1021+121C=
NM_001206940.1:c.*29+121C= NP_001193869.1:n.*29+121C=
NM_001206954.1:c.931+121C= NP_001193883.1:n.931+121C=
NM_001206966.1:c.*29+121C= NP_001193895.1:n.*29+121C=
NM_172197.2:c.911C= NP_751947.1:p.Pro304=
NR_038190.1:n.1349C=
XM_017010328.2:c.1072+121C= XP_016865817.1:n.1072+121C=
XR_001743189.2:n.1130C=
XR_001743190.2:n.1082C=
NM_001136.5:c.1066C= MANE Select NP_001127.1:p.Leu356=
NM_001206932.2:c.1024C= NP_001193861.1:p.Leu342=
NM_001206936.2:c.1021+121C= NP_001193865.1:n.1021+121C=
NM_001206940.2:c.*29+121C= NP_001193869.1:n.*29+121C=
NM_001206954.2:c.931+121C= NP_001193883.1:n.931+121C=
NM_001206966.2:c.*29+121C= NP_001193895.1:n.*29+121C=
NM_172197.3:c.911C= NP_751947.1:p.Pro304=
NR_038190.2:n.1280C=
NM_001206929.2:c.1114C= NP_001193858.1:p.Leu372=
NM_001206934.2:c.*29+121C= NP_001193863.1:n.*29+121C=