Canonical Allele Identifier: CA449826474
Gene: AGER HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32149244T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181467T>G , CM000668.2:g.32181467T>G GRCh38
NC_000006.11:g.32149244T>G , CM000668.1:g.32149244T>G GRCh37
NC_000006.10:g.32257222T>G NCBI36
NG_029868.1:g.7856A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1002A>C MANE Select ENSP00000364217.4:p.Gly334=
ENST00000375055.6:c.*29+57A>C ENSP00000364195.2:n.*29+57A>C
ENST00000375065.6:c.189A>C ENSP00000364206.6:p.Gly63=
ENST00000375067.7:c.847A>C ENSP00000364208.3:p.Arg283=
ENST00000375069.7:c.1050A>C ENSP00000364210.4:p.Gly350=
ENST00000375070.7:c.672A>C ENSP00000364211.4:p.Gly224=
ENST00000375076.8:c.1002A>C ENSP00000364217.4:p.Gly334=
ENST00000438221.6:c.*29+57A>C ENSP00000387887.2:n.*29+57A>C
ENST00000469940.5:n.169A>C
ENST00000473619.5:n.544A>C
ENST00000484849.5:n.1209A>C
ENST00000488669.5:n.615+57A>C
ENST00000620802.4:c.283-34A>C ENSP00000484081.1:n.283-34A>C
NM_001136.4:c.1002A>C NP_001127.1:p.Gly334=
NM_001206929.1:c.1050A>C NP_001193858.1:p.Gly350=
NM_001206932.1:c.960A>C NP_001193861.1:p.Gly320=
NM_001206934.1:c.*29+57A>C NP_001193863.1:n.*29+57A>C
NM_001206936.1:c.1021+57A>C NP_001193865.1:n.1021+57A>C
NM_001206940.1:c.*29+57A>C NP_001193869.1:n.*29+57A>C
NM_001206954.1:c.931+57A>C NP_001193883.1:n.931+57A>C
NM_001206966.1:c.*29+57A>C NP_001193895.1:n.*29+57A>C
NM_172197.2:c.847A>C NP_751947.1:p.Arg283=
NR_038190.1:n.1285A>C
XM_017010328.2:c.1072+57A>C XP_016865817.1:n.1072+57A>C
XR_001743189.2:n.1066A>C
XR_001743190.2:n.1018A>C
NM_001136.5:c.1002A>C MANE Select NP_001127.1:p.Gly334=
NM_001206932.2:c.960A>C NP_001193861.1:p.Gly320=
NM_001206936.2:c.1021+57A>C NP_001193865.1:n.1021+57A>C
NM_001206940.2:c.*29+57A>C NP_001193869.1:n.*29+57A>C
NM_001206954.2:c.931+57A>C NP_001193883.1:n.931+57A>C
NM_001206966.2:c.*29+57A>C NP_001193895.1:n.*29+57A>C
NM_172197.3:c.847A>C NP_751947.1:p.Arg283=
NR_038190.2:n.1216A>C
NM_001206929.2:c.1050A>C NP_001193858.1:p.Gly350=
NM_001206934.2:c.*29+57A>C NP_001193863.1:n.*29+57A>C