Canonical Allele Identifier: CA363510978

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149396C>A (hg19) ; chr6:g.32181619C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181619C>A , CM000668.2:g.32181619C>A	GRCh38
NC_000006.11:g.32149396C>A , CM000668.1:g.32149396C>A	GRCh37
NC_000006.10:g.32257374C>A	NCBI36
NG_029868.1:g.7704G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.978G>T MANE Select	ENSP00000364217.4:p.Glu326Asp
ENST00000375055.6:c.978G>T	ENSP00000364195.2:p.Glu326Asp
ENST00000375065.6:c.165G>T	ENSP00000364206.6:p.Glu55Asp
ENST00000375067.7:c.823G>T	ENSP00000364208.3:p.Gly275Trp
ENST00000375069.7:c.1026G>T	ENSP00000364210.4:p.Glu342Asp
ENST00000375070.7:c.662-142G>T	ENSP00000364211.4:n.662-142G>T
ENST00000375076.8:c.978G>T	ENSP00000364217.4:p.Glu326Asp
ENST00000438221.6:c.1026G>T	ENSP00000387887.2:p.Glu342Asp
ENST00000469940.5:n.17G>T
ENST00000473619.5:n.520G>T
ENST00000484849.5:n.1185G>T
ENST00000488669.5:n.520G>T
ENST00000620802.4:c.283-186G>T	ENSP00000484081.1:n.283-186G>T
NM_001136.4:c.978G>T	NP_001127.1:p.Glu326Asp
NM_001206929.1:c.1026G>T	NP_001193858.1:p.Glu342Asp
NM_001206932.1:c.936G>T	NP_001193861.1:p.Glu312Asp
NM_001206934.1:c.1026G>T	NP_001193863.1:p.Glu342Asp
NM_001206936.1:c.926G>T	NP_001193865.1:p.Arg309Met
NM_001206940.1:c.978G>T	NP_001193869.1:p.Glu326Asp
NM_001206954.1:c.836G>T	NP_001193883.1:p.Arg279Met
NM_001206966.1:c.978G>T	NP_001193895.1:p.Glu326Asp
NM_172197.2:c.823G>T	NP_751947.1:p.Gly275Trp
NR_038190.1:n.1261G>T
XM_017010328.2:c.977G>T	XP_016865817.1:p.Arg326Met
XR_001743189.2:n.1042G>T
XR_001743190.2:n.994G>T
NM_001136.5:c.978G>T MANE Select	NP_001127.1:p.Glu326Asp
NM_001206932.2:c.936G>T	NP_001193861.1:p.Glu312Asp
NM_001206936.2:c.926G>T	NP_001193865.1:p.Arg309Met
NM_001206940.2:c.978G>T	NP_001193869.1:p.Glu326Asp
NM_001206954.2:c.836G>T	NP_001193883.1:p.Arg279Met
NM_001206966.2:c.978G>T	NP_001193895.1:p.Glu326Asp
NM_172197.3:c.823G>T	NP_751947.1:p.Gly275Trp
NR_038190.2:n.1192G>T
NM_001206929.2:c.1026G>T	NP_001193858.1:p.Glu342Asp
NM_001206934.2:c.1026G>T	NP_001193863.1:p.Glu342Asp