Canonical Allele Identifier: CA363510812
Gene: AGER HGNC NCBI

Linked Data

dbSNP Id: rs1240062262
gnomAD v2: 6-32149379-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181602T>C , CM000668.2:g.32181602T>C GRCh38
NC_000006.11:g.32149379T>C , CM000668.1:g.32149379T>C GRCh37
NC_000006.10:g.32257357T>C NCBI36
NG_029868.1:g.7721A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.991+4A>G MANE Select ENSP00000364217.4:n.991+4A>G
ENST00000375055.6:c.995A>G ENSP00000364195.2:p.Glu332Gly
ENST00000375065.6:c.178+4A>G ENSP00000364206.6:n.178+4A>G
ENST00000375067.7:c.836+4A>G ENSP00000364208.3:n.836+4A>G
ENST00000375069.7:c.1039+4A>G ENSP00000364210.4:n.1039+4A>G
ENST00000375070.7:c.662-125A>G ENSP00000364211.4:n.662-125A>G
ENST00000375076.8:c.991+4A>G ENSP00000364217.4:n.991+4A>G
ENST00000438221.6:c.1043A>G ENSP00000387887.2:p.Glu348Gly
ENST00000469940.5:n.34A>G
ENST00000473619.5:n.533+4A>G
ENST00000484849.5:n.1198+4A>G
ENST00000488669.5:n.537A>G
ENST00000620802.4:c.283-169A>G ENSP00000484081.1:n.283-169A>G
NM_001136.4:c.991+4A>G NP_001127.1:n.991+4A>G
NM_001206929.1:c.1039+4A>G NP_001193858.1:n.1039+4A>G
NM_001206932.1:c.949+4A>G NP_001193861.1:n.949+4A>G
NM_001206934.1:c.1043A>G NP_001193863.1:p.Glu348Gly
NM_001206936.1:c.943A>G NP_001193865.1:p.Arg315Gly
NM_001206940.1:c.995A>G NP_001193869.1:p.Glu332Gly
NM_001206954.1:c.853A>G NP_001193883.1:p.Arg285Gly
NM_001206966.1:c.995A>G NP_001193895.1:p.Glu332Gly
NM_172197.2:c.836+4A>G NP_751947.1:n.836+4A>G
NR_038190.1:n.1274+4A>G
XM_017010328.2:c.994A>G XP_016865817.1:p.Arg332Gly
XR_001743189.2:n.1055+4A>G
XR_001743190.2:n.1007+4A>G
NM_001136.5:c.991+4A>G MANE Select NP_001127.1:n.991+4A>G
NM_001206932.2:c.949+4A>G NP_001193861.1:n.949+4A>G
NM_001206936.2:c.943A>G NP_001193865.1:p.Arg315Gly
NM_001206940.2:c.995A>G NP_001193869.1:p.Glu332Gly
NM_001206954.2:c.853A>G NP_001193883.1:p.Arg285Gly
NM_001206966.2:c.995A>G NP_001193895.1:p.Glu332Gly
NM_172197.3:c.836+4A>G NP_751947.1:n.836+4A>G
NR_038190.2:n.1205+4A>G
NM_001206929.2:c.1039+4A>G NP_001193858.1:n.1039+4A>G
NM_001206934.2:c.1043A>G NP_001193863.1:p.Glu348Gly