Canonical Allele Identifier: CA363510242
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181445C>T , CM000668.2:g.32181445C>T GRCh38
NC_000006.11:g.32149222C>T , CM000668.1:g.32149222C>T GRCh37
NC_000006.10:g.32257200C>T NCBI36
NG_029868.1:g.7878G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1024G>A MANE Select ENSP00000364217.4:p.Ala342Thr
ENST00000375055.6:c.*29+79G>A ENSP00000364195.2:n.*29+79G>A
ENST00000375065.6:c.211G>A ENSP00000364206.6:p.Ala71Thr
ENST00000375067.7:c.869G>A ENSP00000364208.3:p.Ser290Asn
ENST00000375069.7:c.1072G>A ENSP00000364210.4:p.Ala358Thr
ENST00000375070.7:c.694G>A ENSP00000364211.4:p.Ala232Thr
ENST00000375076.8:c.1024G>A ENSP00000364217.4:p.Ala342Thr
ENST00000438221.6:c.*29+79G>A ENSP00000387887.2:n.*29+79G>A
ENST00000469940.5:n.191G>A
ENST00000473619.5:n.566G>A
ENST00000484849.5:n.1231G>A
ENST00000488669.5:n.615+79G>A
ENST00000620802.4:c.283-12G>A ENSP00000484081.1:n.283-12G>A
NM_001136.4:c.1024G>A NP_001127.1:p.Ala342Thr
NM_001206929.1:c.1072G>A NP_001193858.1:p.Ala358Thr
NM_001206932.1:c.982G>A NP_001193861.1:p.Ala328Thr
NM_001206934.1:c.*29+79G>A NP_001193863.1:n.*29+79G>A
NM_001206936.1:c.1021+79G>A NP_001193865.1:n.1021+79G>A
NM_001206940.1:c.*29+79G>A NP_001193869.1:n.*29+79G>A
NM_001206954.1:c.931+79G>A NP_001193883.1:n.931+79G>A
NM_001206966.1:c.*29+79G>A NP_001193895.1:n.*29+79G>A
NM_172197.2:c.869G>A NP_751947.1:p.Ser290Asn
NR_038190.1:n.1307G>A
XM_017010328.2:c.1072+79G>A XP_016865817.1:n.1072+79G>A
XR_001743189.2:n.1088G>A
XR_001743190.2:n.1040G>A
NM_001136.5:c.1024G>A MANE Select NP_001127.1:p.Ala342Thr
NM_001206932.2:c.982G>A NP_001193861.1:p.Ala328Thr
NM_001206936.2:c.1021+79G>A NP_001193865.1:n.1021+79G>A
NM_001206940.2:c.*29+79G>A NP_001193869.1:n.*29+79G>A
NM_001206954.2:c.931+79G>A NP_001193883.1:n.931+79G>A
NM_001206966.2:c.*29+79G>A NP_001193895.1:n.*29+79G>A
NM_172197.3:c.869G>A NP_751947.1:p.Ser290Asn
NR_038190.2:n.1238G>A
NM_001206929.2:c.1072G>A NP_001193858.1:p.Ala358Thr
NM_001206934.2:c.*29+79G>A NP_001193863.1:n.*29+79G>A