Canonical Allele Identifier: CA363510323
Gene: AGER HGNC NCBI

Linked Data

gnomAD v4: 6-32181473-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181473A>C , CM000668.2:g.32181473A>C GRCh38
NC_000006.11:g.32149250A>C , CM000668.1:g.32149250A>C GRCh37
NC_000006.10:g.32257228A>C NCBI36
NG_029868.1:g.7850T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.996T>G MANE Select ENSP00000364217.4:p.Ser332=
ENST00000375055.6:c.*29+51T>G ENSP00000364195.2:n.*29+51T>G
ENST00000375065.6:c.183T>G ENSP00000364206.6:p.Ser61=
ENST00000375067.7:c.841T>G ENSP00000364208.3:p.Cys281Gly
ENST00000375069.7:c.1044T>G ENSP00000364210.4:p.Ser348=
ENST00000375070.7:c.666T>G ENSP00000364211.4:p.Ser222=
ENST00000375076.8:c.996T>G ENSP00000364217.4:p.Ser332=
ENST00000438221.6:c.*29+51T>G ENSP00000387887.2:n.*29+51T>G
ENST00000469940.5:n.163T>G
ENST00000473619.5:n.538T>G
ENST00000484849.5:n.1203T>G
ENST00000488669.5:n.615+51T>G
ENST00000620802.4:c.283-40T>G ENSP00000484081.1:n.283-40T>G
NM_001136.4:c.996T>G NP_001127.1:p.Ser332=
NM_001206929.1:c.1044T>G NP_001193858.1:p.Ser348=
NM_001206932.1:c.954T>G NP_001193861.1:p.Ser318=
NM_001206934.1:c.*29+51T>G NP_001193863.1:n.*29+51T>G
NM_001206936.1:c.1021+51T>G NP_001193865.1:n.1021+51T>G
NM_001206940.1:c.*29+51T>G NP_001193869.1:n.*29+51T>G
NM_001206954.1:c.931+51T>G NP_001193883.1:n.931+51T>G
NM_001206966.1:c.*29+51T>G NP_001193895.1:n.*29+51T>G
NM_172197.2:c.841T>G NP_751947.1:p.Cys281Gly
NR_038190.1:n.1279T>G
XM_017010328.2:c.1072+51T>G XP_016865817.1:n.1072+51T>G
XR_001743189.2:n.1060T>G
XR_001743190.2:n.1012T>G
NM_001136.5:c.996T>G MANE Select NP_001127.1:p.Ser332=
NM_001206932.2:c.954T>G NP_001193861.1:p.Ser318=
NM_001206936.2:c.1021+51T>G NP_001193865.1:n.1021+51T>G
NM_001206940.2:c.*29+51T>G NP_001193869.1:n.*29+51T>G
NM_001206954.2:c.931+51T>G NP_001193883.1:n.931+51T>G
NM_001206966.2:c.*29+51T>G NP_001193895.1:n.*29+51T>G
NM_172197.3:c.841T>G NP_751947.1:p.Cys281Gly
NR_038190.2:n.1210T>G
NM_001206929.2:c.1044T>G NP_001193858.1:p.Ser348=
NM_001206934.2:c.*29+51T>G NP_001193863.1:n.*29+51T>G