Canonical Allele Identifier: CA363513087
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32182279T>A , CM000668.2:g.32182279T>A GRCh38
NC_000006.11:g.32150056T>A , CM000668.1:g.32150056T>A GRCh37
NC_000006.10:g.32258034T>A NCBI36
NG_029868.1:g.7044A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.932A>T MANE Select ENSP00000364217.4:p.Gln311Leu
ENST00000375055.6:c.932A>T ENSP00000364195.2:p.Gln311Leu
ENST00000375065.6:c.119A>T ENSP00000364206.6:p.Gln40Leu
ENST00000375067.7:c.809+260A>T ENSP00000364208.3:n.809+260A>T
ENST00000375069.7:c.980A>T ENSP00000364210.4:p.Gln327Leu
ENST00000375070.7:c.629A>T ENSP00000364211.4:p.Gln210Leu
ENST00000375076.8:c.932A>T ENSP00000364217.4:p.Gln311Leu
ENST00000438221.6:c.980A>T ENSP00000387887.2:p.Gln327Leu
ENST00000473619.5:n.474A>T
ENST00000484849.5:n.1139A>T
ENST00000488669.5:n.474A>T
ENST00000620802.4:c.283-846A>T ENSP00000484081.1:n.283-846A>T
NM_001136.4:c.932A>T NP_001127.1:p.Gln311Leu
NM_001206929.1:c.980A>T NP_001193858.1:p.Gln327Leu
NM_001206932.1:c.890A>T NP_001193861.1:p.Gln297Leu
NM_001206934.1:c.980A>T NP_001193863.1:p.Gln327Leu
NM_001206936.1:c.880A>T NP_001193865.1:p.Arg294Trp
NM_001206940.1:c.932A>T NP_001193869.1:p.Gln311Leu
NM_001206954.1:c.822+289A>T NP_001193883.1:n.822+289A>T
NM_001206966.1:c.932A>T NP_001193895.1:p.Gln311Leu
NM_172197.2:c.809+260A>T NP_751947.1:n.809+260A>T
NR_038190.1:n.1215A>T
XM_017010328.2:c.963+289A>T XP_016865817.1:n.963+289A>T
XR_001743189.2:n.1028+289A>T
XR_001743190.2:n.980+289A>T
NM_001136.5:c.932A>T MANE Select NP_001127.1:p.Gln311Leu
NM_001206932.2:c.890A>T NP_001193861.1:p.Gln297Leu
NM_001206936.2:c.880A>T NP_001193865.1:p.Arg294Trp
NM_001206940.2:c.932A>T NP_001193869.1:p.Gln311Leu
NM_001206954.2:c.822+289A>T NP_001193883.1:n.822+289A>T
NM_001206966.2:c.932A>T NP_001193895.1:p.Gln311Leu
NM_172197.3:c.809+260A>T NP_751947.1:n.809+260A>T
NR_038190.2:n.1146A>T
NM_001206929.2:c.980A>T NP_001193858.1:p.Gln327Leu
NM_001206934.2:c.980A>T NP_001193863.1:p.Gln327Leu