Canonical Allele Identifier: CA363509937
Gene: AGER HGNC NCBI

Linked Data

gnomAD v4: 6-32181389-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181389G>A , CM000668.2:g.32181389G>A GRCh38
NC_000006.11:g.32149166G>A , CM000668.1:g.32149166G>A GRCh37
NC_000006.10:g.32257144G>A NCBI36
NG_029868.1:g.7934C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375076.9:c.1080C>T MANE Select ENSP00000364217.4:p.Val360=
ENST00000375055.6:c.*29+135C>T ENSP00000364195.2:n.*29+135C>T
ENST00000375065.6:c.267C>T ENSP00000364206.6:p.Val89=
ENST00000375067.7:c.925C>T ENSP00000364208.3:p.His309Tyr
ENST00000375069.7:c.1128C>T ENSP00000364210.4:p.Val376=
ENST00000375070.7:c.750C>T ENSP00000364211.4:p.Val250=
ENST00000375076.8:c.1080C>T ENSP00000364217.4:p.Val360=
ENST00000438221.6:c.*29+135C>T ENSP00000387887.2:n.*29+135C>T
ENST00000469940.5:n.247C>T
ENST00000473619.5:n.622C>T
ENST00000484849.5:n.1287C>T
ENST00000488669.5:n.615+135C>T
ENST00000620802.4:c.327C>T ENSP00000484081.1:p.Val109=
NM_001136.4:c.1080C>T NP_001127.1:p.Val360=
NM_001206929.1:c.1128C>T NP_001193858.1:p.Val376=
NM_001206932.1:c.1038C>T NP_001193861.1:p.Val346=
NM_001206934.1:c.*29+135C>T NP_001193863.1:n.*29+135C>T
NM_001206936.1:c.1021+135C>T NP_001193865.1:n.1021+135C>T
NM_001206940.1:c.*29+135C>T NP_001193869.1:n.*29+135C>T
NM_001206954.1:c.931+135C>T NP_001193883.1:n.931+135C>T
NM_001206966.1:c.*29+135C>T NP_001193895.1:n.*29+135C>T
NM_172197.2:c.925C>T NP_751947.1:p.His309Tyr
NR_038190.1:n.1363C>T
XM_017010328.2:c.1072+135C>T XP_016865817.1:n.1072+135C>T
XR_001743189.2:n.1144C>T
XR_001743190.2:n.1096C>T
NM_001136.5:c.1080C>T MANE Select NP_001127.1:p.Val360=
NM_001206932.2:c.1038C>T NP_001193861.1:p.Val346=
NM_001206936.2:c.1021+135C>T NP_001193865.1:n.1021+135C>T
NM_001206940.2:c.*29+135C>T NP_001193869.1:n.*29+135C>T
NM_001206954.2:c.931+135C>T NP_001193883.1:n.931+135C>T
NM_001206966.2:c.*29+135C>T NP_001193895.1:n.*29+135C>T
NM_172197.3:c.925C>T NP_751947.1:p.His309Tyr
NR_038190.2:n.1294C>T
NM_001206929.2:c.1128C>T NP_001193858.1:p.Val376=
NM_001206934.2:c.*29+135C>T NP_001193863.1:n.*29+135C>T