Canonical Allele Identifier: CA363509886

Gene: AGER

Linked Data

• gnomAD v4: 6-32181379-G-T
• MyVariant Identifiers: chr6:g.32149156G>T (hg19) ; chr6:g.32181379G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181379G>T , CM000668.2:g.32181379G>T	GRCh38
NC_000006.11:g.32149156G>T , CM000668.1:g.32149156G>T	GRCh37
NC_000006.10:g.32257134G>T	NCBI36
NG_029868.1:g.7944C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1090C>A MANE Select	ENSP00000364217.4:p.Gln364Lys
ENST00000375055.6:c.*30-140C>A	ENSP00000364195.2:n.*30-140C>A
ENST00000375065.6:c.277C>A	ENSP00000364206.6:p.Gln93Lys
ENST00000375067.7:c.935C>A	ENSP00000364208.3:p.Ala312Glu
ENST00000375069.7:c.1138C>A	ENSP00000364210.4:p.Gln380Lys
ENST00000375070.7:c.760C>A	ENSP00000364211.4:p.Gln254Lys
ENST00000375076.8:c.1090C>A	ENSP00000364217.4:p.Gln364Lys
ENST00000438221.6:c.*30-140C>A	ENSP00000387887.2:n.*30-140C>A
ENST00000469940.5:n.257C>A
ENST00000473619.5:n.632C>A
ENST00000484849.5:n.1297C>A
ENST00000488669.5:n.616-140C>A
ENST00000620802.4:c.337C>A	ENSP00000484081.1:p.Gln113Lys
NM_001136.4:c.1090C>A	NP_001127.1:p.Gln364Lys
NM_001206929.1:c.1138C>A	NP_001193858.1:p.Gln380Lys
NM_001206932.1:c.1048C>A	NP_001193861.1:p.Gln350Lys
NM_001206934.1:c.*30-140C>A	NP_001193863.1:n.*30-140C>A
NM_001206936.1:c.1022-140C>A	NP_001193865.1:n.1022-140C>A
NM_001206940.1:c.*30-140C>A	NP_001193869.1:n.*30-140C>A
NM_001206954.1:c.932-140C>A	NP_001193883.1:n.932-140C>A
NM_001206966.1:c.*29+145C>A	NP_001193895.1:n.*29+145C>A
NM_172197.2:c.935C>A	NP_751947.1:p.Ala312Glu
NR_038190.1:n.1373C>A
XM_017010328.2:c.1073-140C>A	XP_016865817.1:n.1073-140C>A
XR_001743189.2:n.1154C>A
XR_001743190.2:n.1106C>A
NM_001136.5:c.1090C>A MANE Select	NP_001127.1:p.Gln364Lys
NM_001206932.2:c.1048C>A	NP_001193861.1:p.Gln350Lys
NM_001206936.2:c.1022-140C>A	NP_001193865.1:n.1022-140C>A
NM_001206940.2:c.*30-140C>A	NP_001193869.1:n.*30-140C>A
NM_001206954.2:c.932-140C>A	NP_001193883.1:n.932-140C>A
NM_001206966.2:c.*29+145C>A	NP_001193895.1:n.*29+145C>A
NM_172197.3:c.935C>A	NP_751947.1:p.Ala312Glu
NR_038190.2:n.1304C>A
NM_001206929.2:c.1138C>A	NP_001193858.1:p.Gln380Lys
NM_001206934.2:c.*30-140C>A	NP_001193863.1:n.*30-140C>A