Canonical Allele Identifier: CA363510972

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149395C>G (hg19) ; chr6:g.32181618C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181618C>G , CM000668.2:g.32181618C>G	GRCh38
NC_000006.11:g.32149395C>G , CM000668.1:g.32149395C>G	GRCh37
NC_000006.10:g.32257373C>G	NCBI36
NG_029868.1:g.7705G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.979G>C MANE Select	ENSP00000364217.4:p.Gly327Arg
ENST00000375055.6:c.979G>C	ENSP00000364195.2:p.Gly327Arg
ENST00000375065.6:c.166G>C	ENSP00000364206.6:p.Gly56Arg
ENST00000375067.7:c.824G>C	ENSP00000364208.3:p.Gly275Ala
ENST00000375069.7:c.1027G>C	ENSP00000364210.4:p.Gly343Arg
ENST00000375070.7:c.662-141G>C	ENSP00000364211.4:n.662-141G>C
ENST00000375076.8:c.979G>C	ENSP00000364217.4:p.Gly327Arg
ENST00000438221.6:c.1027G>C	ENSP00000387887.2:p.Gly343Arg
ENST00000469940.5:n.18G>C
ENST00000473619.5:n.521G>C
ENST00000484849.5:n.1186G>C
ENST00000488669.5:n.521G>C
ENST00000620802.4:c.283-185G>C	ENSP00000484081.1:n.283-185G>C
NM_001136.4:c.979G>C	NP_001127.1:p.Gly327Arg
NM_001206929.1:c.1027G>C	NP_001193858.1:p.Gly343Arg
NM_001206932.1:c.937G>C	NP_001193861.1:p.Gly313Arg
NM_001206934.1:c.1027G>C	NP_001193863.1:p.Gly343Arg
NM_001206936.1:c.927G>C	NP_001193865.1:p.Arg309Ser
NM_001206940.1:c.979G>C	NP_001193869.1:p.Gly327Arg
NM_001206954.1:c.837G>C	NP_001193883.1:p.Arg279Ser
NM_001206966.1:c.979G>C	NP_001193895.1:p.Gly327Arg
NM_172197.2:c.824G>C	NP_751947.1:p.Gly275Ala
NR_038190.1:n.1262G>C
XM_017010328.2:c.978G>C	XP_016865817.1:p.Arg326Ser
XR_001743189.2:n.1043G>C
XR_001743190.2:n.995G>C
NM_001136.5:c.979G>C MANE Select	NP_001127.1:p.Gly327Arg
NM_001206932.2:c.937G>C	NP_001193861.1:p.Gly313Arg
NM_001206936.2:c.927G>C	NP_001193865.1:p.Arg309Ser
NM_001206940.2:c.979G>C	NP_001193869.1:p.Gly327Arg
NM_001206954.2:c.837G>C	NP_001193883.1:p.Arg279Ser
NM_001206966.2:c.979G>C	NP_001193895.1:p.Gly327Arg
NM_172197.3:c.824G>C	NP_751947.1:p.Gly275Ala
NR_038190.2:n.1193G>C
NM_001206929.2:c.1027G>C	NP_001193858.1:p.Gly343Arg
NM_001206934.2:c.1027G>C	NP_001193863.1:p.Gly343Arg