Canonical Allele Identifier: CA363510926
Gene: AGER HGNC NCBI

Linked Data

gnomAD v4: 6-32181614-G-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.983C>G MANE Select ENSP00000364217.4:p.Pro328Arg
ENST00000375055.6:c.983C>G ENSP00000364195.2:p.Pro328Arg
ENST00000375065.6:c.170C>G ENSP00000364206.6:p.Pro57Arg
ENST00000375067.7:c.828C>G ENSP00000364208.3:p.Ala276=
ENST00000375069.7:c.1031C>G ENSP00000364210.4:p.Pro344Arg
ENST00000375070.7:c.662-137C>G ENSP00000364211.4:n.662-137C>G
ENST00000375076.8:c.983C>G ENSP00000364217.4:p.Pro328Arg
ENST00000438221.6:c.1031C>G ENSP00000387887.2:p.Pro344Arg
ENST00000469940.5:n.22C>G
ENST00000473619.5:n.525C>G
ENST00000484849.5:n.1190C>G
ENST00000488669.5:n.525C>G
ENST00000620802.4:c.283-181C>G ENSP00000484081.1:n.283-181C>G
NM_001136.4:c.983C>G NP_001127.1:p.Pro328Arg
NM_001206929.1:c.1031C>G NP_001193858.1:p.Pro344Arg
NM_001206932.1:c.941C>G NP_001193861.1:p.Pro314Arg
NM_001206934.1:c.1031C>G NP_001193863.1:p.Pro344Arg
NM_001206936.1:c.931C>G NP_001193865.1:p.Gln311Glu
NM_001206940.1:c.983C>G NP_001193869.1:p.Pro328Arg
NM_001206954.1:c.841C>G NP_001193883.1:p.Gln281Glu
NM_001206966.1:c.983C>G NP_001193895.1:p.Pro328Arg
NM_172197.2:c.828C>G NP_751947.1:p.Ala276=
NR_038190.1:n.1266C>G
XM_017010328.2:c.982C>G XP_016865817.1:p.Gln328Glu
XR_001743189.2:n.1047C>G
XR_001743190.2:n.999C>G
NM_001136.5:c.983C>G MANE Select NP_001127.1:p.Pro328Arg
NM_001206932.2:c.941C>G NP_001193861.1:p.Pro314Arg
NM_001206936.2:c.931C>G NP_001193865.1:p.Gln311Glu
NM_001206940.2:c.983C>G NP_001193869.1:p.Pro328Arg
NM_001206954.2:c.841C>G NP_001193883.1:p.Gln281Glu
NM_001206966.2:c.983C>G NP_001193895.1:p.Pro328Arg
NM_172197.3:c.828C>G NP_751947.1:p.Ala276=
NR_038190.2:n.1197C>G
NM_001206929.2:c.1031C>G NP_001193858.1:p.Pro344Arg
NM_001206934.2:c.1031C>G NP_001193863.1:p.Pro344Arg