Canonical Allele Identifier: CA363513081

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150054C>T (hg19) ; chr6:g.32182277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182277C>T , CM000668.2:g.32182277C>T	GRCh38
NC_000006.11:g.32150054C>T , CM000668.1:g.32150054C>T	GRCh37
NC_000006.10:g.32258032C>T	NCBI36
NG_029868.1:g.7046G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.934G>A MANE Select	ENSP00000364217.4:p.Glu312Lys
ENST00000375055.6:c.934G>A	ENSP00000364195.2:p.Glu312Lys
ENST00000375065.6:c.121G>A	ENSP00000364206.6:p.Glu41Lys
ENST00000375067.7:c.809+262G>A	ENSP00000364208.3:n.809+262G>A
ENST00000375069.7:c.982G>A	ENSP00000364210.4:p.Glu328Lys
ENST00000375070.7:c.631G>A	ENSP00000364211.4:p.Glu211Lys
ENST00000375076.8:c.934G>A	ENSP00000364217.4:p.Glu312Lys
ENST00000438221.6:c.982G>A	ENSP00000387887.2:p.Glu328Lys
ENST00000473619.5:n.476G>A
ENST00000484849.5:n.1141G>A
ENST00000488669.5:n.476G>A
ENST00000620802.4:c.283-844G>A	ENSP00000484081.1:n.283-844G>A
NM_001136.4:c.934G>A	NP_001127.1:p.Glu312Lys
NM_001206929.1:c.982G>A	NP_001193858.1:p.Glu328Lys
NM_001206932.1:c.892G>A	NP_001193861.1:p.Glu298Lys
NM_001206934.1:c.982G>A	NP_001193863.1:p.Glu328Lys
NM_001206936.1:c.882G>A	NP_001193865.1:p.Arg294=
NM_001206940.1:c.934G>A	NP_001193869.1:p.Glu312Lys
NM_001206954.1:c.822+291G>A	NP_001193883.1:n.822+291G>A
NM_001206966.1:c.934G>A	NP_001193895.1:p.Glu312Lys
NM_172197.2:c.809+262G>A	NP_751947.1:n.809+262G>A
NR_038190.1:n.1217G>A
XM_017010328.2:c.963+291G>A	XP_016865817.1:n.963+291G>A
XR_001743189.2:n.1028+291G>A
XR_001743190.2:n.980+291G>A
NM_001136.5:c.934G>A MANE Select	NP_001127.1:p.Glu312Lys
NM_001206932.2:c.892G>A	NP_001193861.1:p.Glu298Lys
NM_001206936.2:c.882G>A	NP_001193865.1:p.Arg294=
NM_001206940.2:c.934G>A	NP_001193869.1:p.Glu312Lys
NM_001206954.2:c.822+291G>A	NP_001193883.1:n.822+291G>A
NM_001206966.2:c.934G>A	NP_001193895.1:p.Glu312Lys
NM_172197.3:c.809+262G>A	NP_751947.1:n.809+262G>A
NR_038190.2:n.1148G>A
NM_001206929.2:c.982G>A	NP_001193858.1:p.Glu328Lys
NM_001206934.2:c.982G>A	NP_001193863.1:p.Glu328Lys