Canonical Allele Identifier: CA363510850

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149383C>G (hg19) ; chr6:g.32181606C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181606C>G , CM000668.2:g.32181606C>G	GRCh38
NC_000006.11:g.32149383C>G , CM000668.1:g.32149383C>G	GRCh37
NC_000006.10:g.32257361C>G	NCBI36
NG_029868.1:g.7717G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.991G>C MANE Select	ENSP00000364217.4:p.Gly331Arg
ENST00000375055.6:c.991G>C	ENSP00000364195.2:p.Gly331Arg
ENST00000375065.6:c.178G>C	ENSP00000364206.6:p.Gly60Arg
ENST00000375067.7:c.836G>C	ENSP00000364208.3:p.Arg279Thr
ENST00000375069.7:c.1039G>C	ENSP00000364210.4:p.Gly347Arg
ENST00000375070.7:c.662-129G>C	ENSP00000364211.4:n.662-129G>C
ENST00000375076.8:c.991G>C	ENSP00000364217.4:p.Gly331Arg
ENST00000438221.6:c.1039G>C	ENSP00000387887.2:p.Gly347Arg
ENST00000469940.5:n.30G>C
ENST00000473619.5:n.533G>C
ENST00000484849.5:n.1198G>C
ENST00000488669.5:n.533G>C
ENST00000620802.4:c.283-173G>C	ENSP00000484081.1:n.283-173G>C
NM_001136.4:c.991G>C	NP_001127.1:p.Gly331Arg
NM_001206929.1:c.1039G>C	NP_001193858.1:p.Gly347Arg
NM_001206932.1:c.949G>C	NP_001193861.1:p.Gly317Arg
NM_001206934.1:c.1039G>C	NP_001193863.1:p.Gly347Arg
NM_001206936.1:c.939G>C	NP_001193865.1:p.Gln313His
NM_001206940.1:c.991G>C	NP_001193869.1:p.Gly331Arg
NM_001206954.1:c.849G>C	NP_001193883.1:p.Gln283His
NM_001206966.1:c.991G>C	NP_001193895.1:p.Gly331Arg
NM_172197.2:c.836G>C	NP_751947.1:p.Arg279Thr
NR_038190.1:n.1274G>C
XM_017010328.2:c.990G>C	XP_016865817.1:p.Gln330His
XR_001743189.2:n.1055G>C
XR_001743190.2:n.1007G>C
NM_001136.5:c.991G>C MANE Select	NP_001127.1:p.Gly331Arg
NM_001206932.2:c.949G>C	NP_001193861.1:p.Gly317Arg
NM_001206936.2:c.939G>C	NP_001193865.1:p.Gln313His
NM_001206940.2:c.991G>C	NP_001193869.1:p.Gly331Arg
NM_001206954.2:c.849G>C	NP_001193883.1:p.Gln283His
NM_001206966.2:c.991G>C	NP_001193895.1:p.Gly331Arg
NM_172197.3:c.836G>C	NP_751947.1:p.Arg279Thr
NR_038190.2:n.1205G>C
NM_001206929.2:c.1039G>C	NP_001193858.1:p.Gly347Arg
NM_001206934.2:c.1039G>C	NP_001193863.1:p.Gly347Arg