Canonical Allele Identifier: CA363518950
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32183578G>T , CM000668.2:g.32183578G>T GRCh38
NC_000006.11:g.32151355G>T , CM000668.1:g.32151355G>T GRCh37
NC_000006.10:g.32259333G>T NCBI36
NG_029868.1:g.5745C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375076.9:c.332C>A MANE Select ENSP00000364217.4:p.Ser111Tyr
ENST00000375055.6:c.332C>A ENSP00000364195.2:p.Ser111Tyr
ENST00000375056.6:c.332C>A ENSP00000364196.2:p.Ser111Tyr
ENST00000375065.6:c.-182+380C>A ENSP00000364206.6:n.-182+380C>A
ENST00000375067.7:c.290C>A ENSP00000364208.3:p.Ser97Tyr
ENST00000375069.7:c.332C>A ENSP00000364210.4:p.Ser111Tyr
ENST00000375070.7:c.29C>A ENSP00000364211.4:p.Ser10Tyr
ENST00000375076.8:c.332C>A ENSP00000364217.4:p.Ser111Tyr
ENST00000438221.6:c.332C>A ENSP00000387887.2:p.Ser111Tyr
ENST00000450110.5:c.332C>A ENSP00000398466.1:p.Ser111Tyr
ENST00000484849.5:n.539C>A
ENST00000538695.2:c.332C>A ENSP00000445389.1:p.Ser111Tyr
ENST00000620802.4:c.282+50C>A ENSP00000484081.1:n.282+50C>A
NM_001136.4:c.332C>A NP_001127.1:p.Ser111Tyr
NM_001206929.1:c.332C>A NP_001193858.1:p.Ser111Tyr
NM_001206932.1:c.290C>A NP_001193861.1:p.Ser97Tyr
NM_001206934.1:c.332C>A NP_001193863.1:p.Ser111Tyr
NM_001206936.1:c.332C>A NP_001193865.1:p.Ser111Tyr
NM_001206940.1:c.332C>A NP_001193869.1:p.Ser111Tyr
NM_001206954.1:c.332C>A NP_001193883.1:p.Ser111Tyr
NM_001206966.1:c.332C>A NP_001193895.1:p.Ser111Tyr
NM_172197.2:c.290C>A NP_751947.1:p.Ser97Tyr
NR_038190.1:n.615C>A
XM_017010328.2:c.425C>A XP_016865817.1:p.Ser142Tyr
XR_001743189.2:n.490C>A
XR_001743190.2:n.490C>A
NM_001136.5:c.332C>A MANE Select NP_001127.1:p.Ser111Tyr
NM_001206932.2:c.290C>A NP_001193861.1:p.Ser97Tyr
NM_001206936.2:c.332C>A NP_001193865.1:p.Ser111Tyr
NM_001206940.2:c.332C>A NP_001193869.1:p.Ser111Tyr
NM_001206954.2:c.332C>A NP_001193883.1:p.Ser111Tyr
NM_001206966.2:c.332C>A NP_001193895.1:p.Ser111Tyr
NM_172197.3:c.290C>A NP_751947.1:p.Ser97Tyr
NR_038190.2:n.546C>A
NM_001206929.2:c.332C>A NP_001193858.1:p.Ser111Tyr
NM_001206934.2:c.332C>A NP_001193863.1:p.Ser111Tyr