Canonical Allele Identifier: CA363510935
Gene: AGER HGNC NCBI

Linked Data

dbSNP Id: rs1344795526
gnomAD v3: 6-32181615-G-A
gnomAD v4: 6-32181615-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32181615G>A , CM000668.2:g.32181615G>A GRCh38
NC_000006.11:g.32149392G>A , CM000668.1:g.32149392G>A GRCh37
NC_000006.10:g.32257370G>A NCBI36
NG_029868.1:g.7708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.982C>T MANE Select ENSP00000364217.4:p.Pro328Ser
ENST00000375055.6:c.982C>T ENSP00000364195.2:p.Pro328Ser
ENST00000375065.6:c.169C>T ENSP00000364206.6:p.Pro57Ser
ENST00000375067.7:c.827C>T ENSP00000364208.3:p.Ala276Val
ENST00000375069.7:c.1030C>T ENSP00000364210.4:p.Pro344Ser
ENST00000375070.7:c.662-138C>T ENSP00000364211.4:n.662-138C>T
ENST00000375076.8:c.982C>T ENSP00000364217.4:p.Pro328Ser
ENST00000438221.6:c.1030C>T ENSP00000387887.2:p.Pro344Ser
ENST00000469940.5:n.21C>T
ENST00000473619.5:n.524C>T
ENST00000484849.5:n.1189C>T
ENST00000488669.5:n.524C>T
ENST00000620802.4:c.283-182C>T ENSP00000484081.1:n.283-182C>T
NM_001136.4:c.982C>T NP_001127.1:p.Pro328Ser
NM_001206929.1:c.1030C>T NP_001193858.1:p.Pro344Ser
NM_001206932.1:c.940C>T NP_001193861.1:p.Pro314Ser
NM_001206934.1:c.1030C>T NP_001193863.1:p.Pro344Ser
NM_001206936.1:c.930C>T NP_001193865.1:p.Gly310=
NM_001206940.1:c.982C>T NP_001193869.1:p.Pro328Ser
NM_001206954.1:c.840C>T NP_001193883.1:p.Gly280=
NM_001206966.1:c.982C>T NP_001193895.1:p.Pro328Ser
NM_172197.2:c.827C>T NP_751947.1:p.Ala276Val
NR_038190.1:n.1265C>T
XM_017010328.2:c.981C>T XP_016865817.1:p.Gly327=
XR_001743189.2:n.1046C>T
XR_001743190.2:n.998C>T
NM_001136.5:c.982C>T MANE Select NP_001127.1:p.Pro328Ser
NM_001206932.2:c.940C>T NP_001193861.1:p.Pro314Ser
NM_001206936.2:c.930C>T NP_001193865.1:p.Gly310=
NM_001206940.2:c.982C>T NP_001193869.1:p.Pro328Ser
NM_001206954.2:c.840C>T NP_001193883.1:p.Gly280=
NM_001206966.2:c.982C>T NP_001193895.1:p.Pro328Ser
NM_172197.3:c.827C>T NP_751947.1:p.Ala276Val
NR_038190.2:n.1196C>T
NM_001206929.2:c.1030C>T NP_001193858.1:p.Pro344Ser
NM_001206934.2:c.1030C>T NP_001193863.1:p.Pro344Ser