Canonical Allele Identifier: CA363512898
Gene: AGER HGNC NCBI

Linked Data

gnomAD v4: 6-32182247-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32182247C>G , CM000668.2:g.32182247C>G GRCh38
NC_000006.11:g.32150024C>G , CM000668.1:g.32150024C>G GRCh37
NC_000006.10:g.32258002C>G NCBI36
NG_029868.1:g.7076G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.964G>C MANE Select ENSP00000364217.4:p.Glu322Gln
ENST00000375055.6:c.964G>C ENSP00000364195.2:p.Glu322Gln
ENST00000375065.6:c.151G>C ENSP00000364206.6:p.Glu51Gln
ENST00000375067.7:c.809+292G>C ENSP00000364208.3:n.809+292G>C
ENST00000375069.7:c.1012G>C ENSP00000364210.4:p.Glu338Gln
ENST00000375070.7:c.661G>C ENSP00000364211.4:p.Gly221Arg
ENST00000375076.8:c.964G>C ENSP00000364217.4:p.Glu322Gln
ENST00000438221.6:c.1012G>C ENSP00000387887.2:p.Glu338Gln
ENST00000473619.5:n.506G>C
ENST00000484849.5:n.1171G>C
ENST00000488669.5:n.506G>C
ENST00000620802.4:c.283-814G>C ENSP00000484081.1:n.283-814G>C
NM_001136.4:c.964G>C NP_001127.1:p.Glu322Gln
NM_001206929.1:c.1012G>C NP_001193858.1:p.Glu338Gln
NM_001206932.1:c.922G>C NP_001193861.1:p.Glu308Gln
NM_001206934.1:c.1012G>C NP_001193863.1:p.Glu338Gln
NM_001206936.1:c.912G>C NP_001193865.1:p.Ser304=
NM_001206940.1:c.964G>C NP_001193869.1:p.Glu322Gln
NM_001206954.1:c.822+321G>C NP_001193883.1:n.822+321G>C
NM_001206966.1:c.964G>C NP_001193895.1:p.Glu322Gln
NM_172197.2:c.809+292G>C NP_751947.1:n.809+292G>C
NR_038190.1:n.1247G>C
XM_017010328.2:c.963+321G>C XP_016865817.1:n.963+321G>C
XR_001743189.2:n.1028+321G>C
XR_001743190.2:n.980+321G>C
NM_001136.5:c.964G>C MANE Select NP_001127.1:p.Glu322Gln
NM_001206932.2:c.922G>C NP_001193861.1:p.Glu308Gln
NM_001206936.2:c.912G>C NP_001193865.1:p.Ser304=
NM_001206940.2:c.964G>C NP_001193869.1:p.Glu322Gln
NM_001206954.2:c.822+321G>C NP_001193883.1:n.822+321G>C
NM_001206966.2:c.964G>C NP_001193895.1:p.Glu322Gln
NM_172197.3:c.809+292G>C NP_751947.1:n.809+292G>C
NR_038190.2:n.1178G>C
NM_001206929.2:c.1012G>C NP_001193858.1:p.Glu338Gln
NM_001206934.2:c.1012G>C NP_001193863.1:p.Glu338Gln