Canonical Allele Identifier: CA363511025
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181628T>A , CM000668.2:g.32181628T>A GRCh38
NC_000006.11:g.32149405T>A , CM000668.1:g.32149405T>A GRCh37
NC_000006.10:g.32257383T>A NCBI36
NG_029868.1:g.7695A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.969A>T MANE Select ENSP00000364217.4:p.Pro323=
ENST00000375055.6:c.969A>T ENSP00000364195.2:p.Pro323=
ENST00000375065.6:c.156A>T ENSP00000364206.6:p.Pro52=
ENST00000375067.7:c.814A>T ENSP00000364208.3:p.Arg272Trp
ENST00000375069.7:c.1017A>T ENSP00000364210.4:p.Pro339=
ENST00000375070.7:c.662-151A>T ENSP00000364211.4:n.662-151A>T
ENST00000375076.8:c.969A>T ENSP00000364217.4:p.Pro323=
ENST00000438221.6:c.1017A>T ENSP00000387887.2:p.Pro339=
ENST00000469940.5:n.8A>T
ENST00000473619.5:n.511A>T
ENST00000484849.5:n.1176A>T
ENST00000488669.5:n.511A>T
ENST00000620802.4:c.283-195A>T ENSP00000484081.1:n.283-195A>T
NM_001136.4:c.969A>T NP_001127.1:p.Pro323=
NM_001206929.1:c.1017A>T NP_001193858.1:p.Pro339=
NM_001206932.1:c.927A>T NP_001193861.1:p.Pro309=
NM_001206934.1:c.1017A>T NP_001193863.1:p.Pro339=
NM_001206936.1:c.917A>T NP_001193865.1:p.Gln306Leu
NM_001206940.1:c.969A>T NP_001193869.1:p.Pro323=
NM_001206954.1:c.827A>T NP_001193883.1:p.Gln276Leu
NM_001206966.1:c.969A>T NP_001193895.1:p.Pro323=
NM_172197.2:c.814A>T NP_751947.1:p.Arg272Trp
NR_038190.1:n.1252A>T
XM_017010328.2:c.968A>T XP_016865817.1:p.Gln323Leu
XR_001743189.2:n.1033A>T
XR_001743190.2:n.985A>T
NM_001136.5:c.969A>T MANE Select NP_001127.1:p.Pro323=
NM_001206932.2:c.927A>T NP_001193861.1:p.Pro309=
NM_001206936.2:c.917A>T NP_001193865.1:p.Gln306Leu
NM_001206940.2:c.969A>T NP_001193869.1:p.Pro323=
NM_001206954.2:c.827A>T NP_001193883.1:p.Gln276Leu
NM_001206966.2:c.969A>T NP_001193895.1:p.Pro323=
NM_172197.3:c.814A>T NP_751947.1:p.Arg272Trp
NR_038190.2:n.1183A>T
NM_001206929.2:c.1017A>T NP_001193858.1:p.Pro339=
NM_001206934.2:c.1017A>T NP_001193863.1:p.Pro339=