Canonical Allele Identifier: CA3737944
Gene: AGER HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2071288

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181483C>T , CM000668.2:g.32181483C>T GRCh38
NC_000006.11:g.32149260C>T , CM000668.1:g.32149260C>T GRCh37
NC_000006.10:g.32257238C>T NCBI36
NG_029868.1:g.7840G>A

Transcript Alleles

HGVS Amino-acid change
NM_001136.4:c.992-6G>A VV NP_001127.1:p.=
NM_001206929.1:c.1040-6G>A VV NP_001193858.1:p.=
NM_001206932.1:c.950-6G>A VV NP_001193861.1:p.=
NM_001206934.1:c.*29+41G>A VV NP_001193863.1:p.=
NM_001206936.1:c.1021+41G>A VV NP_001193865.1:p.=
NM_001206940.1:c.*29+41G>A VV NP_001193869.1:p.=
NM_001206954.1:c.931+41G>A VV NP_001193883.1:p.=
NM_001206966.1:c.*29+41G>A VV NP_001193895.1:p.=
NM_172197.2:c.837-6G>A VV NP_751947.1:p.=
NR_038190.1:n.1275-6G>A
XM_017010328.2:c.1072+41G>A XP_016865817.1:p.=
XR_001743189.2:n.1056-6G>A
XR_001743190.2:n.1008-6G>A
NM_001136.5:c.992-6G>A VV MANE Preferred NP_001127.1:p.=
ENST00000375055.6:c.*29+41G>A ENSP00000364195.2:p.=
ENST00000375065.6:c.179-6G>A ENSP00000364206.6:p.=
ENST00000375067.7:c.837-6G>A ENSP00000364208.3:p.=
ENST00000375069.7:c.1040-6G>A ENSP00000364210.4:p.=
ENST00000375070.7:c.662-6G>A ENSP00000364211.4:p.=
ENST00000375076.8:c.992-6G>A ENSP00000364217.4:p.=
ENST00000438221.6:c.*29+41G>A ENSP00000387887.2:p.=
ENST00000469940.5:n.153G>A
ENST00000473619.5:n.534-6G>A
ENST00000484849.5:n.1199-6G>A
ENST00000488669.5:n.615+41G>A
ENST00000620802.4:c.283-50G>A ENSP00000484081.1:p.=