Canonical Allele Identifier: CA3738082

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182636C>T , CM000668.2:g.32182636C>T	GRCh38
NC_000006.11:g.32150413C>T , CM000668.1:g.32150413C>T	GRCh37
NC_000006.10:g.32258391C>T	NCBI36
NG_029868.1:g.6687G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001136.5:c.754G>A MANE Select	NP_001127.1:p.Gly252Ser
ENST00000375076.9:c.754G>A MANE Select	ENSP00000364217.4:p.Gly252Ser
NM_001136.4:c.754G>A	NP_001127.1:p.Gly252Ser
NM_001206929.1:c.802G>A	NP_001193858.1:p.Gly268Ser
NM_001206929.2:c.802G>A	NP_001193858.1:p.Gly268Ser
NM_001206932.1:c.712G>A	NP_001193861.1:p.Gly238Ser
NM_001206932.2:c.712G>A	NP_001193861.1:p.Gly238Ser
NM_001206934.1:c.802G>A	NP_001193863.1:p.Gly268Ser
NM_001206934.2:c.802G>A	NP_001193863.1:p.Gly268Ser
NM_001206936.1:c.754G>A	NP_001193865.1:p.Gly252Ser
NM_001206936.2:c.754G>A	NP_001193865.1:p.Gly252Ser
NM_001206940.1:c.754G>A	NP_001193869.1:p.Gly252Ser
NM_001206940.2:c.754G>A	NP_001193869.1:p.Gly252Ser
NM_001206954.1:c.754G>A	NP_001193883.1:p.Gly252Ser
NM_001206954.2:c.754G>A	NP_001193883.1:p.Gly252Ser
NM_001206966.1:c.754G>A	NP_001193895.1:p.Gly252Ser
NM_001206966.2:c.754G>A	NP_001193895.1:p.Gly252Ser
NM_172197.2:c.712G>A	NP_751947.1:p.Gly238Ser
NM_172197.3:c.712G>A	NP_751947.1:p.Gly238Ser
NR_038190.1:n.1037G>A
NR_038190.2:n.968G>A
ENST00000375055.6:c.754G>A	ENSP00000364195.2:p.Gly252Ser
ENST00000375065.6:c.-60G>A	ENSP00000364206.6:n.-60G>A
ENST00000375067.7:c.712G>A	ENSP00000364208.3:p.Gly238Ser
ENST00000375069.7:c.802G>A	ENSP00000364210.4:p.Gly268Ser
ENST00000375070.7:c.451G>A	ENSP00000364211.4:p.Gly151Ser
ENST00000375076.8:c.754G>A	ENSP00000364217.4:p.Gly252Ser
ENST00000438221.6:c.802G>A	ENSP00000387887.2:p.Gly268Ser
ENST00000473619.5:n.296G>A
ENST00000484849.5:n.961G>A
ENST00000488669.5:n.296G>A
ENST00000620802.4:c.282+992G>A	ENSP00000484081.1:n.282+992G>A
XM_017010328.2:c.895G>A	XP_016865817.1:p.Gly299Ser
XR_001743189.2:n.960G>A
XR_001743190.2:n.912G>A