Canonical Allele Identifier: CA363510922
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181614G>T , CM000668.2:g.32181614G>T GRCh38
NC_000006.11:g.32149391G>T , CM000668.1:g.32149391G>T GRCh37
NC_000006.10:g.32257369G>T NCBI36
NG_029868.1:g.7709C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.983C>A MANE Select ENSP00000364217.4:p.Pro328Gln
ENST00000375055.6:c.983C>A ENSP00000364195.2:p.Pro328Gln
ENST00000375065.6:c.170C>A ENSP00000364206.6:p.Pro57Gln
ENST00000375067.7:c.828C>A ENSP00000364208.3:p.Ala276=
ENST00000375069.7:c.1031C>A ENSP00000364210.4:p.Pro344Gln
ENST00000375070.7:c.662-137C>A ENSP00000364211.4:n.662-137C>A
ENST00000375076.8:c.983C>A ENSP00000364217.4:p.Pro328Gln
ENST00000438221.6:c.1031C>A ENSP00000387887.2:p.Pro344Gln
ENST00000469940.5:n.22C>A
ENST00000473619.5:n.525C>A
ENST00000484849.5:n.1190C>A
ENST00000488669.5:n.525C>A
ENST00000620802.4:c.283-181C>A ENSP00000484081.1:n.283-181C>A
NM_001136.4:c.983C>A NP_001127.1:p.Pro328Gln
NM_001206929.1:c.1031C>A NP_001193858.1:p.Pro344Gln
NM_001206932.1:c.941C>A NP_001193861.1:p.Pro314Gln
NM_001206934.1:c.1031C>A NP_001193863.1:p.Pro344Gln
NM_001206936.1:c.931C>A NP_001193865.1:p.Gln311Lys
NM_001206940.1:c.983C>A NP_001193869.1:p.Pro328Gln
NM_001206954.1:c.841C>A NP_001193883.1:p.Gln281Lys
NM_001206966.1:c.983C>A NP_001193895.1:p.Pro328Gln
NM_172197.2:c.828C>A NP_751947.1:p.Ala276=
NR_038190.1:n.1266C>A
XM_017010328.2:c.982C>A XP_016865817.1:p.Gln328Lys
XR_001743189.2:n.1047C>A
XR_001743190.2:n.999C>A
NM_001136.5:c.983C>A MANE Select NP_001127.1:p.Pro328Gln
NM_001206932.2:c.941C>A NP_001193861.1:p.Pro314Gln
NM_001206936.2:c.931C>A NP_001193865.1:p.Gln311Lys
NM_001206940.2:c.983C>A NP_001193869.1:p.Pro328Gln
NM_001206954.2:c.841C>A NP_001193883.1:p.Gln281Lys
NM_001206966.2:c.983C>A NP_001193895.1:p.Pro328Gln
NM_172197.3:c.828C>A NP_751947.1:p.Ala276=
NR_038190.2:n.1197C>A
NM_001206929.2:c.1031C>A NP_001193858.1:p.Pro344Gln
NM_001206934.2:c.1031C>A NP_001193863.1:p.Pro344Gln