Canonical Allele Identifier: CA3737920
Gene: AGER HGNC NCBI

Linked Data

dbSNP Id: rs768135894
gnomAD v2: 6-32149146-T-G
gnomAD v3: 6-32181369-T-G
gnomAD v4: 6-32181369-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181369T>G , CM000668.2:g.32181369T>G GRCh38
NC_000006.11:g.32149146T>G , CM000668.1:g.32149146T>G GRCh37
NC_000006.10:g.32257124T>G NCBI36
NG_029868.1:g.7954A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1100A>C MANE Select ENSP00000364217.4:p.Gln367Pro
ENST00000375055.6:c.*30-130A>C ENSP00000364195.2:n.*30-130A>C
ENST00000375065.6:c.287A>C ENSP00000364206.6:p.Gln96Pro
ENST00000375067.7:c.945A>C ENSP00000364208.3:p.Ala315=
ENST00000375069.7:c.1148A>C ENSP00000364210.4:p.Gln383Pro
ENST00000375070.7:c.770A>C ENSP00000364211.4:p.Gln257Pro
ENST00000375076.8:c.1100A>C ENSP00000364217.4:p.Gln367Pro
ENST00000438221.6:c.*30-130A>C ENSP00000387887.2:n.*30-130A>C
ENST00000469940.5:n.267A>C
ENST00000473619.5:n.642A>C
ENST00000484849.5:n.1307A>C
ENST00000488669.5:n.616-130A>C
ENST00000620802.4:c.347A>C ENSP00000484081.1:p.Gln116Pro
NM_001136.4:c.1100A>C NP_001127.1:p.Gln367Pro
NM_001206929.1:c.1148A>C NP_001193858.1:p.Gln383Pro
NM_001206932.1:c.1058A>C NP_001193861.1:p.Gln353Pro
NM_001206934.1:c.*30-130A>C NP_001193863.1:n.*30-130A>C
NM_001206936.1:c.1022-130A>C NP_001193865.1:n.1022-130A>C
NM_001206940.1:c.*30-130A>C NP_001193869.1:n.*30-130A>C
NM_001206954.1:c.932-130A>C NP_001193883.1:n.932-130A>C
NM_001206966.1:c.*29+155A>C NP_001193895.1:n.*29+155A>C
NM_172197.2:c.945A>C NP_751947.1:p.Ala315=
NR_038190.1:n.1383A>C
XM_017010328.2:c.1073-130A>C XP_016865817.1:n.1073-130A>C
XR_001743189.2:n.1164A>C
XR_001743190.2:n.1116A>C
NM_001136.5:c.1100A>C MANE Select NP_001127.1:p.Gln367Pro
NM_001206932.2:c.1058A>C NP_001193861.1:p.Gln353Pro
NM_001206936.2:c.1022-130A>C NP_001193865.1:n.1022-130A>C
NM_001206940.2:c.*30-130A>C NP_001193869.1:n.*30-130A>C
NM_001206954.2:c.932-130A>C NP_001193883.1:n.932-130A>C
NM_001206966.2:c.*29+155A>C NP_001193895.1:n.*29+155A>C
NM_172197.3:c.945A>C NP_751947.1:p.Ala315=
NR_038190.2:n.1314A>C
NM_001206929.2:c.1148A>C NP_001193858.1:p.Gln383Pro
NM_001206934.2:c.*30-130A>C NP_001193863.1:n.*30-130A>C