Canonical Allele Identifier: CA363513065

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150052T>A (hg19) ; chr6:g.32182275T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182275T>A , CM000668.2:g.32182275T>A	GRCh38
NC_000006.11:g.32150052T>A , CM000668.1:g.32150052T>A	GRCh37
NC_000006.10:g.32258030T>A	NCBI36
NG_029868.1:g.7048A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.936A>T MANE Select	ENSP00000364217.4:p.Glu312Asp
ENST00000375055.6:c.936A>T	ENSP00000364195.2:p.Glu312Asp
ENST00000375065.6:c.123A>T	ENSP00000364206.6:p.Glu41Asp
ENST00000375067.7:c.809+264A>T	ENSP00000364208.3:n.809+264A>T
ENST00000375069.7:c.984A>T	ENSP00000364210.4:p.Glu328Asp
ENST00000375070.7:c.633A>T	ENSP00000364211.4:p.Glu211Asp
ENST00000375076.8:c.936A>T	ENSP00000364217.4:p.Glu312Asp
ENST00000438221.6:c.984A>T	ENSP00000387887.2:p.Glu328Asp
ENST00000473619.5:n.478A>T
ENST00000484849.5:n.1143A>T
ENST00000488669.5:n.478A>T
ENST00000620802.4:c.283-842A>T	ENSP00000484081.1:n.283-842A>T
NM_001136.4:c.936A>T	NP_001127.1:p.Glu312Asp
NM_001206929.1:c.984A>T	NP_001193858.1:p.Glu328Asp
NM_001206932.1:c.894A>T	NP_001193861.1:p.Glu298Asp
NM_001206934.1:c.984A>T	NP_001193863.1:p.Glu328Asp
NM_001206936.1:c.884A>T	NP_001193865.1:p.Lys295Ile
NM_001206940.1:c.936A>T	NP_001193869.1:p.Glu312Asp
NM_001206954.1:c.822+293A>T	NP_001193883.1:n.822+293A>T
NM_001206966.1:c.936A>T	NP_001193895.1:p.Glu312Asp
NM_172197.2:c.809+264A>T	NP_751947.1:n.809+264A>T
NR_038190.1:n.1219A>T
XM_017010328.2:c.963+293A>T	XP_016865817.1:n.963+293A>T
XR_001743189.2:n.1028+293A>T
XR_001743190.2:n.980+293A>T
NM_001136.5:c.936A>T MANE Select	NP_001127.1:p.Glu312Asp
NM_001206932.2:c.894A>T	NP_001193861.1:p.Glu298Asp
NM_001206936.2:c.884A>T	NP_001193865.1:p.Lys295Ile
NM_001206940.2:c.936A>T	NP_001193869.1:p.Glu312Asp
NM_001206954.2:c.822+293A>T	NP_001193883.1:n.822+293A>T
NM_001206966.2:c.936A>T	NP_001193895.1:p.Glu312Asp
NM_172197.3:c.809+264A>T	NP_751947.1:n.809+264A>T
NR_038190.2:n.1150A>T
NM_001206929.2:c.984A>T	NP_001193858.1:p.Glu328Asp
NM_001206934.2:c.984A>T	NP_001193863.1:p.Glu328Asp