Canonical Allele Identifier: CA363510864
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181608G>A , CM000668.2:g.32181608G>A GRCh38
NC_000006.11:g.32149385G>A , CM000668.1:g.32149385G>A GRCh37
NC_000006.10:g.32257363G>A NCBI36
NG_029868.1:g.7715C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.989C>T MANE Select ENSP00000364217.4:p.Ala330Val
ENST00000375055.6:c.989C>T ENSP00000364195.2:p.Ala330Val
ENST00000375065.6:c.176C>T ENSP00000364206.6:p.Ala59Val
ENST00000375067.7:c.834C>T ENSP00000364208.3:p.Cys278=
ENST00000375069.7:c.1037C>T ENSP00000364210.4:p.Ala346Val
ENST00000375070.7:c.662-131C>T ENSP00000364211.4:n.662-131C>T
ENST00000375076.8:c.989C>T ENSP00000364217.4:p.Ala330Val
ENST00000438221.6:c.1037C>T ENSP00000387887.2:p.Ala346Val
ENST00000469940.5:n.28C>T
ENST00000473619.5:n.531C>T
ENST00000484849.5:n.1196C>T
ENST00000488669.5:n.531C>T
ENST00000620802.4:c.283-175C>T ENSP00000484081.1:n.283-175C>T
NM_001136.4:c.989C>T NP_001127.1:p.Ala330Val
NM_001206929.1:c.1037C>T NP_001193858.1:p.Ala346Val
NM_001206932.1:c.947C>T NP_001193861.1:p.Ala316Val
NM_001206934.1:c.1037C>T NP_001193863.1:p.Ala346Val
NM_001206936.1:c.937C>T NP_001193865.1:p.Gln313Ter
NM_001206940.1:c.989C>T NP_001193869.1:p.Ala330Val
NM_001206954.1:c.847C>T NP_001193883.1:p.Gln283Ter
NM_001206966.1:c.989C>T NP_001193895.1:p.Ala330Val
NM_172197.2:c.834C>T NP_751947.1:p.Cys278=
NR_038190.1:n.1272C>T
XM_017010328.2:c.988C>T XP_016865817.1:p.Gln330Ter
XR_001743189.2:n.1053C>T
XR_001743190.2:n.1005C>T
NM_001136.5:c.989C>T MANE Select NP_001127.1:p.Ala330Val
NM_001206932.2:c.947C>T NP_001193861.1:p.Ala316Val
NM_001206936.2:c.937C>T NP_001193865.1:p.Gln313Ter
NM_001206940.2:c.989C>T NP_001193869.1:p.Ala330Val
NM_001206954.2:c.847C>T NP_001193883.1:p.Gln283Ter
NM_001206966.2:c.989C>T NP_001193895.1:p.Ala330Val
NM_172197.3:c.834C>T NP_751947.1:p.Cys278=
NR_038190.2:n.1203C>T
NM_001206929.2:c.1037C>T NP_001193858.1:p.Ala346Val
NM_001206934.2:c.1037C>T NP_001193863.1:p.Ala346Val