Canonical Allele Identifier: CA363510955

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149393C>G (hg19) ; chr6:g.32181616C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181616C>G , CM000668.2:g.32181616C>G	GRCh38
NC_000006.11:g.32149393C>G , CM000668.1:g.32149393C>G	GRCh37
NC_000006.10:g.32257371C>G	NCBI36
NG_029868.1:g.7707G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.981G>C MANE Select	ENSP00000364217.4:p.Gly327=
ENST00000375055.6:c.981G>C	ENSP00000364195.2:p.Gly327=
ENST00000375065.6:c.168G>C	ENSP00000364206.6:p.Gly56=
ENST00000375067.7:c.826G>C	ENSP00000364208.3:p.Ala276Pro
ENST00000375069.7:c.1029G>C	ENSP00000364210.4:p.Gly343=
ENST00000375070.7:c.662-139G>C	ENSP00000364211.4:n.662-139G>C
ENST00000375076.8:c.981G>C	ENSP00000364217.4:p.Gly327=
ENST00000438221.6:c.1029G>C	ENSP00000387887.2:p.Gly343=
ENST00000469940.5:n.20G>C
ENST00000473619.5:n.523G>C
ENST00000484849.5:n.1188G>C
ENST00000488669.5:n.523G>C
ENST00000620802.4:c.283-183G>C	ENSP00000484081.1:n.283-183G>C
NM_001136.4:c.981G>C	NP_001127.1:p.Gly327=
NM_001206929.1:c.1029G>C	NP_001193858.1:p.Gly343=
NM_001206932.1:c.939G>C	NP_001193861.1:p.Gly313=
NM_001206934.1:c.1029G>C	NP_001193863.1:p.Gly343=
NM_001206936.1:c.929G>C	NP_001193865.1:p.Gly310Ala
NM_001206940.1:c.981G>C	NP_001193869.1:p.Gly327=
NM_001206954.1:c.839G>C	NP_001193883.1:p.Gly280Ala
NM_001206966.1:c.981G>C	NP_001193895.1:p.Gly327=
NM_172197.2:c.826G>C	NP_751947.1:p.Ala276Pro
NR_038190.1:n.1264G>C
XM_017010328.2:c.980G>C	XP_016865817.1:p.Gly327Ala
XR_001743189.2:n.1045G>C
XR_001743190.2:n.997G>C
NM_001136.5:c.981G>C MANE Select	NP_001127.1:p.Gly327=
NM_001206932.2:c.939G>C	NP_001193861.1:p.Gly313=
NM_001206936.2:c.929G>C	NP_001193865.1:p.Gly310Ala
NM_001206940.2:c.981G>C	NP_001193869.1:p.Gly327=
NM_001206954.2:c.839G>C	NP_001193883.1:p.Gly280Ala
NM_001206966.2:c.981G>C	NP_001193895.1:p.Gly327=
NM_172197.3:c.826G>C	NP_751947.1:p.Ala276Pro
NR_038190.2:n.1195G>C
NM_001206929.2:c.1029G>C	NP_001193858.1:p.Gly343=
NM_001206934.2:c.1029G>C	NP_001193863.1:p.Gly343=