Canonical Allele Identifier: CA363513045

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150049G>C (hg19) ; chr6:g.32182272G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182272G>C , CM000668.2:g.32182272G>C	GRCh38
NC_000006.11:g.32150049G>C , CM000668.1:g.32150049G>C	GRCh37
NC_000006.10:g.32258027G>C	NCBI36
NG_029868.1:g.7051C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.939C>G MANE Select	ENSP00000364217.4:p.Ser313Arg
ENST00000375055.6:c.939C>G	ENSP00000364195.2:p.Ser313Arg
ENST00000375065.6:c.126C>G	ENSP00000364206.6:p.Ser42Arg
ENST00000375067.7:c.809+267C>G	ENSP00000364208.3:n.809+267C>G
ENST00000375069.7:c.987C>G	ENSP00000364210.4:p.Ser329Arg
ENST00000375070.7:c.636C>G	ENSP00000364211.4:p.Ser212Arg
ENST00000375076.8:c.939C>G	ENSP00000364217.4:p.Ser313Arg
ENST00000438221.6:c.987C>G	ENSP00000387887.2:p.Ser329Arg
ENST00000473619.5:n.481C>G
ENST00000484849.5:n.1146C>G
ENST00000488669.5:n.481C>G
ENST00000620802.4:c.283-839C>G	ENSP00000484081.1:n.283-839C>G
NM_001136.4:c.939C>G	NP_001127.1:p.Ser313Arg
NM_001206929.1:c.987C>G	NP_001193858.1:p.Ser329Arg
NM_001206932.1:c.897C>G	NP_001193861.1:p.Ser299Arg
NM_001206934.1:c.987C>G	NP_001193863.1:p.Ser329Arg
NM_001206936.1:c.887C>G	NP_001193865.1:p.Ala296Gly
NM_001206940.1:c.939C>G	NP_001193869.1:p.Ser313Arg
NM_001206954.1:c.822+296C>G	NP_001193883.1:n.822+296C>G
NM_001206966.1:c.939C>G	NP_001193895.1:p.Ser313Arg
NM_172197.2:c.809+267C>G	NP_751947.1:n.809+267C>G
NR_038190.1:n.1222C>G
XM_017010328.2:c.963+296C>G	XP_016865817.1:n.963+296C>G
XR_001743189.2:n.1028+296C>G
XR_001743190.2:n.980+296C>G
NM_001136.5:c.939C>G MANE Select	NP_001127.1:p.Ser313Arg
NM_001206932.2:c.897C>G	NP_001193861.1:p.Ser299Arg
NM_001206936.2:c.887C>G	NP_001193865.1:p.Ala296Gly
NM_001206940.2:c.939C>G	NP_001193869.1:p.Ser313Arg
NM_001206954.2:c.822+296C>G	NP_001193883.1:n.822+296C>G
NM_001206966.2:c.939C>G	NP_001193895.1:p.Ser313Arg
NM_172197.3:c.809+267C>G	NP_751947.1:n.809+267C>G
NR_038190.2:n.1153C>G
NM_001206929.2:c.987C>G	NP_001193858.1:p.Ser329Arg
NM_001206934.2:c.987C>G	NP_001193863.1:p.Ser329Arg