Canonical Allele Identifier: CA449826571
Gene: AGER HGNC NCBI

Linked Data

dbSNP Id: rs1473223525
gnomAD v2: 6-32150049-G-A
gnomAD v4: 6-32182272-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32182272G>A , CM000668.2:g.32182272G>A GRCh38
NC_000006.11:g.32150049G>A , CM000668.1:g.32150049G>A GRCh37
NC_000006.10:g.32258027G>A NCBI36
NG_029868.1:g.7051C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.939C>T MANE Select ENSP00000364217.4:p.Ser313=
ENST00000375055.6:c.939C>T ENSP00000364195.2:p.Ser313=
ENST00000375065.6:c.126C>T ENSP00000364206.6:p.Ser42=
ENST00000375067.7:c.809+267C>T ENSP00000364208.3:n.809+267C>T
ENST00000375069.7:c.987C>T ENSP00000364210.4:p.Ser329=
ENST00000375070.7:c.636C>T ENSP00000364211.4:p.Ser212=
ENST00000375076.8:c.939C>T ENSP00000364217.4:p.Ser313=
ENST00000438221.6:c.987C>T ENSP00000387887.2:p.Ser329=
ENST00000473619.5:n.481C>T
ENST00000484849.5:n.1146C>T
ENST00000488669.5:n.481C>T
ENST00000620802.4:c.283-839C>T ENSP00000484081.1:n.283-839C>T
NM_001136.4:c.939C>T NP_001127.1:p.Ser313=
NM_001206929.1:c.987C>T NP_001193858.1:p.Ser329=
NM_001206932.1:c.897C>T NP_001193861.1:p.Ser299=
NM_001206934.1:c.987C>T NP_001193863.1:p.Ser329=
NM_001206936.1:c.887C>T NP_001193865.1:p.Ala296Val
NM_001206940.1:c.939C>T NP_001193869.1:p.Ser313=
NM_001206954.1:c.822+296C>T NP_001193883.1:n.822+296C>T
NM_001206966.1:c.939C>T NP_001193895.1:p.Ser313=
NM_172197.2:c.809+267C>T NP_751947.1:n.809+267C>T
NR_038190.1:n.1222C>T
XM_017010328.2:c.963+296C>T XP_016865817.1:n.963+296C>T
XR_001743189.2:n.1028+296C>T
XR_001743190.2:n.980+296C>T
NM_001136.5:c.939C>T MANE Select NP_001127.1:p.Ser313=
NM_001206932.2:c.897C>T NP_001193861.1:p.Ser299=
NM_001206936.2:c.887C>T NP_001193865.1:p.Ala296Val
NM_001206940.2:c.939C>T NP_001193869.1:p.Ser313=
NM_001206954.2:c.822+296C>T NP_001193883.1:n.822+296C>T
NM_001206966.2:c.939C>T NP_001193895.1:p.Ser313=
NM_172197.3:c.809+267C>T NP_751947.1:n.809+267C>T
NR_038190.2:n.1153C>T
NM_001206929.2:c.987C>T NP_001193858.1:p.Ser329=
NM_001206934.2:c.987C>T NP_001193863.1:p.Ser329=