Canonical Allele Identifier: CA363510271
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181455C>A , CM000668.2:g.32181455C>A GRCh38
NC_000006.11:g.32149232C>A , CM000668.1:g.32149232C>A GRCh37
NC_000006.10:g.32257210C>A NCBI36
NG_029868.1:g.7868G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.1014G>T MANE Select ENSP00000364217.4:p.Leu338=
ENST00000375055.6:c.*29+69G>T ENSP00000364195.2:n.*29+69G>T
ENST00000375065.6:c.201G>T ENSP00000364206.6:p.Leu67=
ENST00000375067.7:c.859G>T ENSP00000364208.3:p.Gly287Trp
ENST00000375069.7:c.1062G>T ENSP00000364210.4:p.Leu354=
ENST00000375070.7:c.684G>T ENSP00000364211.4:p.Leu228=
ENST00000375076.8:c.1014G>T ENSP00000364217.4:p.Leu338=
ENST00000438221.6:c.*29+69G>T ENSP00000387887.2:n.*29+69G>T
ENST00000469940.5:n.181G>T
ENST00000473619.5:n.556G>T
ENST00000484849.5:n.1221G>T
ENST00000488669.5:n.615+69G>T
ENST00000620802.4:c.283-22G>T ENSP00000484081.1:n.283-22G>T
NM_001136.4:c.1014G>T NP_001127.1:p.Leu338=
NM_001206929.1:c.1062G>T NP_001193858.1:p.Leu354=
NM_001206932.1:c.972G>T NP_001193861.1:p.Leu324=
NM_001206934.1:c.*29+69G>T NP_001193863.1:n.*29+69G>T
NM_001206936.1:c.1021+69G>T NP_001193865.1:n.1021+69G>T
NM_001206940.1:c.*29+69G>T NP_001193869.1:n.*29+69G>T
NM_001206954.1:c.931+69G>T NP_001193883.1:n.931+69G>T
NM_001206966.1:c.*29+69G>T NP_001193895.1:n.*29+69G>T
NM_172197.2:c.859G>T NP_751947.1:p.Gly287Trp
NR_038190.1:n.1297G>T
XM_017010328.2:c.1072+69G>T XP_016865817.1:n.1072+69G>T
XR_001743189.2:n.1078G>T
XR_001743190.2:n.1030G>T
NM_001136.5:c.1014G>T MANE Select NP_001127.1:p.Leu338=
NM_001206932.2:c.972G>T NP_001193861.1:p.Leu324=
NM_001206936.2:c.1021+69G>T NP_001193865.1:n.1021+69G>T
NM_001206940.2:c.*29+69G>T NP_001193869.1:n.*29+69G>T
NM_001206954.2:c.931+69G>T NP_001193883.1:n.931+69G>T
NM_001206966.2:c.*29+69G>T NP_001193895.1:n.*29+69G>T
NM_172197.3:c.859G>T NP_751947.1:p.Gly287Trp
NR_038190.2:n.1228G>T
NM_001206929.2:c.1062G>T NP_001193858.1:p.Leu354=
NM_001206934.2:c.*29+69G>T NP_001193863.1:n.*29+69G>T