Canonical Allele Identifier: CA2678126964
Gene: AGER HGNC NCBI

Linked Data

gnomAD v4: 6-32181530-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181530T>C , CM000668.2:g.32181530T>C GRCh38
NC_000006.11:g.32149307T>C , CM000668.1:g.32149307T>C GRCh37
NC_000006.10:g.32257285T>C NCBI36
NG_029868.1:g.7793A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.992-53A>G MANE Select ENSP00000364217.4:n.992-53A>G
ENST00000375055.6:c.*23A>G ENSP00000364195.2:n.*23A>G
ENST00000375065.6:c.179-53A>G ENSP00000364206.6:n.179-53A>G
ENST00000375067.7:c.837-53A>G ENSP00000364208.3:n.837-53A>G
ENST00000375069.7:c.1040-53A>G ENSP00000364210.4:n.1040-53A>G
ENST00000375070.7:c.662-53A>G ENSP00000364211.4:n.662-53A>G
ENST00000375076.8:c.992-53A>G ENSP00000364217.4:n.992-53A>G
ENST00000438221.6:c.*23A>G ENSP00000387887.2:n.*23A>G
ENST00000469940.5:n.106A>G
ENST00000473619.5:n.534-53A>G
ENST00000484849.5:n.1199-53A>G
ENST00000488669.5:n.609A>G
ENST00000620802.4:c.283-97A>G ENSP00000484081.1:n.283-97A>G
NM_001136.4:c.992-53A>G NP_001127.1:n.992-53A>G
NM_001206929.1:c.1040-53A>G NP_001193858.1:n.1040-53A>G
NM_001206932.1:c.950-53A>G NP_001193861.1:n.950-53A>G
NM_001206934.1:c.*23A>G NP_001193863.1:n.*23A>G
NM_001206936.1:c.1015A>G NP_001193865.1:p.Arg339Gly
NM_001206940.1:c.*23A>G NP_001193869.1:n.*23A>G
NM_001206954.1:c.925A>G NP_001193883.1:p.Arg309Gly
NM_001206966.1:c.*23A>G NP_001193895.1:n.*23A>G
NM_172197.2:c.837-53A>G NP_751947.1:n.837-53A>G
NR_038190.1:n.1275-53A>G
XM_017010328.2:c.1066A>G XP_016865817.1:p.Arg356Gly
XR_001743189.2:n.1056-53A>G
XR_001743190.2:n.1008-53A>G
NM_001136.5:c.992-53A>G MANE Select NP_001127.1:n.992-53A>G
NM_001206932.2:c.950-53A>G NP_001193861.1:n.950-53A>G
NM_001206936.2:c.1015A>G NP_001193865.1:p.Arg339Gly
NM_001206940.2:c.*23A>G NP_001193869.1:n.*23A>G
NM_001206954.2:c.925A>G NP_001193883.1:p.Arg309Gly
NM_001206966.2:c.*23A>G NP_001193895.1:n.*23A>G
NM_172197.3:c.837-53A>G NP_751947.1:n.837-53A>G
NR_038190.2:n.1206-53A>G
NM_001206929.2:c.1040-53A>G NP_001193858.1:n.1040-53A>G
NM_001206934.2:c.*23A>G NP_001193863.1:n.*23A>G