Canonical Allele Identifier: CA363510211
Gene: AGER HGNC NCBI

Linked Data

gnomAD v4: 6-32181437-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181437G>A , CM000668.2:g.32181437G>A GRCh38
NC_000006.11:g.32149214G>A , CM000668.1:g.32149214G>A GRCh37
NC_000006.10:g.32257192G>A NCBI36
NG_029868.1:g.7886C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1032C>T MANE Select ENSP00000364217.4:p.Ala344=
ENST00000375055.6:c.*29+87C>T ENSP00000364195.2:n.*29+87C>T
ENST00000375065.6:c.219C>T ENSP00000364206.6:p.Ala73=
ENST00000375067.7:c.877C>T ENSP00000364208.3:p.Pro293Ser
ENST00000375069.7:c.1080C>T ENSP00000364210.4:p.Ala360=
ENST00000375070.7:c.702C>T ENSP00000364211.4:p.Ala234=
ENST00000375076.8:c.1032C>T ENSP00000364217.4:p.Ala344=
ENST00000438221.6:c.*29+87C>T ENSP00000387887.2:n.*29+87C>T
ENST00000469940.5:n.199C>T
ENST00000473619.5:n.574C>T
ENST00000484849.5:n.1239C>T
ENST00000488669.5:n.615+87C>T
ENST00000620802.4:c.283-4C>T ENSP00000484081.1:n.283-4C>T
NM_001136.4:c.1032C>T NP_001127.1:p.Ala344=
NM_001206929.1:c.1080C>T NP_001193858.1:p.Ala360=
NM_001206932.1:c.990C>T NP_001193861.1:p.Ala330=
NM_001206934.1:c.*29+87C>T NP_001193863.1:n.*29+87C>T
NM_001206936.1:c.1021+87C>T NP_001193865.1:n.1021+87C>T
NM_001206940.1:c.*29+87C>T NP_001193869.1:n.*29+87C>T
NM_001206954.1:c.931+87C>T NP_001193883.1:n.931+87C>T
NM_001206966.1:c.*29+87C>T NP_001193895.1:n.*29+87C>T
NM_172197.2:c.877C>T NP_751947.1:p.Pro293Ser
NR_038190.1:n.1315C>T
XM_017010328.2:c.1072+87C>T XP_016865817.1:n.1072+87C>T
XR_001743189.2:n.1096C>T
XR_001743190.2:n.1048C>T
NM_001136.5:c.1032C>T MANE Select NP_001127.1:p.Ala344=
NM_001206932.2:c.990C>T NP_001193861.1:p.Ala330=
NM_001206936.2:c.1021+87C>T NP_001193865.1:n.1021+87C>T
NM_001206940.2:c.*29+87C>T NP_001193869.1:n.*29+87C>T
NM_001206954.2:c.931+87C>T NP_001193883.1:n.931+87C>T
NM_001206966.2:c.*29+87C>T NP_001193895.1:n.*29+87C>T
NM_172197.3:c.877C>T NP_751947.1:p.Pro293Ser
NR_038190.2:n.1246C>T
NM_001206929.2:c.1080C>T NP_001193858.1:p.Ala360=
NM_001206934.2:c.*29+87C>T NP_001193863.1:n.*29+87C>T