Canonical Allele Identifier: CA1619451451
Gene: AGER HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.982C= MANE Select ENSP00000364217.4:p.Pro328=
ENST00000375055.6:c.982C= ENSP00000364195.2:p.Pro328=
ENST00000375065.6:c.169C= ENSP00000364206.6:p.Pro57=
ENST00000375067.7:c.827C= ENSP00000364208.3:p.Ala276=
ENST00000375069.7:c.1030C= ENSP00000364210.4:p.Pro344=
ENST00000375070.7:c.662-138C= ENSP00000364211.4:n.662-138C=
ENST00000375076.8:c.982C= ENSP00000364217.4:p.Pro328=
ENST00000438221.6:c.1030C= ENSP00000387887.2:p.Pro344=
ENST00000469940.5:n.21C=
ENST00000473619.5:n.524C=
ENST00000484849.5:n.1189C=
ENST00000488669.5:n.524C=
ENST00000620802.4:c.283-182C= ENSP00000484081.1:n.283-182C=
NM_001136.4:c.982C= NP_001127.1:p.Pro328=
NM_001206929.1:c.1030C= NP_001193858.1:p.Pro344=
NM_001206932.1:c.940C= NP_001193861.1:p.Pro314=
NM_001206934.1:c.1030C= NP_001193863.1:p.Pro344=
NM_001206936.1:c.930C= NP_001193865.1:p.Gly310=
NM_001206940.1:c.982C= NP_001193869.1:p.Pro328=
NM_001206954.1:c.840C= NP_001193883.1:p.Gly280=
NM_001206966.1:c.982C= NP_001193895.1:p.Pro328=
NM_172197.2:c.827C= NP_751947.1:p.Ala276=
NR_038190.1:n.1265C=
XM_017010328.2:c.981C= XP_016865817.1:p.Gly327=
XR_001743189.2:n.1046C=
XR_001743190.2:n.998C=
NM_001136.5:c.982C= MANE Select NP_001127.1:p.Pro328=
NM_001206932.2:c.940C= NP_001193861.1:p.Pro314=
NM_001206936.2:c.930C= NP_001193865.1:p.Gly310=
NM_001206940.2:c.982C= NP_001193869.1:p.Pro328=
NM_001206954.2:c.840C= NP_001193883.1:p.Gly280=
NM_001206966.2:c.982C= NP_001193895.1:p.Pro328=
NM_172197.3:c.827C= NP_751947.1:p.Ala276=
NR_038190.2:n.1196C=
NM_001206929.2:c.1030C= NP_001193858.1:p.Pro344=
NM_001206934.2:c.1030C= NP_001193863.1:p.Pro344=