Canonical Allele Identifier: CA363510984

Gene: AGER

Linked Data

• dbSNP Id: rs1473552449
• gnomAD v2: 6-32149397-T-G
• MyVariant Identifiers: chr6:g.32149397T>G (hg19) ; chr6:g.32181620T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181620T>G , CM000668.2:g.32181620T>G	GRCh38
NC_000006.11:g.32149397T>G , CM000668.1:g.32149397T>G	GRCh37
NC_000006.10:g.32257375T>G	NCBI36
NG_029868.1:g.7703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.977A>C MANE Select	ENSP00000364217.4:p.Glu326Ala
ENST00000375055.6:c.977A>C	ENSP00000364195.2:p.Glu326Ala
ENST00000375065.6:c.164A>C	ENSP00000364206.6:p.Glu55Ala
ENST00000375067.7:c.822A>C	ENSP00000364208.3:p.Gly274=
ENST00000375069.7:c.1025A>C	ENSP00000364210.4:p.Glu342Ala
ENST00000375070.7:c.662-143A>C	ENSP00000364211.4:n.662-143A>C
ENST00000375076.8:c.977A>C	ENSP00000364217.4:p.Glu326Ala
ENST00000438221.6:c.1025A>C	ENSP00000387887.2:p.Glu342Ala
ENST00000469940.5:n.16A>C
ENST00000473619.5:n.519A>C
ENST00000484849.5:n.1184A>C
ENST00000488669.5:n.519A>C
ENST00000620802.4:c.283-187A>C	ENSP00000484081.1:n.283-187A>C
NM_001136.4:c.977A>C	NP_001127.1:p.Glu326Ala
NM_001206929.1:c.1025A>C	NP_001193858.1:p.Glu342Ala
NM_001206932.1:c.935A>C	NP_001193861.1:p.Glu312Ala
NM_001206934.1:c.1025A>C	NP_001193863.1:p.Glu342Ala
NM_001206936.1:c.925A>C	NP_001193865.1:p.Arg309=
NM_001206940.1:c.977A>C	NP_001193869.1:p.Glu326Ala
NM_001206954.1:c.835A>C	NP_001193883.1:p.Arg279=
NM_001206966.1:c.977A>C	NP_001193895.1:p.Glu326Ala
NM_172197.2:c.822A>C	NP_751947.1:p.Gly274=
NR_038190.1:n.1260A>C
XM_017010328.2:c.976A>C	XP_016865817.1:p.Arg326=
XR_001743189.2:n.1041A>C
XR_001743190.2:n.993A>C
NM_001136.5:c.977A>C MANE Select	NP_001127.1:p.Glu326Ala
NM_001206932.2:c.935A>C	NP_001193861.1:p.Glu312Ala
NM_001206936.2:c.925A>C	NP_001193865.1:p.Arg309=
NM_001206940.2:c.977A>C	NP_001193869.1:p.Glu326Ala
NM_001206954.2:c.835A>C	NP_001193883.1:p.Arg279=
NM_001206966.2:c.977A>C	NP_001193895.1:p.Glu326Ala
NM_172197.3:c.822A>C	NP_751947.1:p.Gly274=
NR_038190.2:n.1191A>C
NM_001206929.2:c.1025A>C	NP_001193858.1:p.Glu342Ala
NM_001206934.2:c.1025A>C	NP_001193863.1:p.Glu342Ala