Canonical Allele Identifier: CA363510996

Gene: AGER

Linked Data

• ClinVar Variation Id: 742280
• ClinVar RCV Id: RCV000918517
• dbSNP Id: rs1162823369
• gnomAD v2: 6-32149399-C-T
• gnomAD v4: 6-32181622-C-T
• MyVariant Identifiers: chr6:g.32149399C>T (hg19) ; chr6:g.32181622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181622C>T , CM000668.2:g.32181622C>T	GRCh38
NC_000006.11:g.32149399C>T , CM000668.1:g.32149399C>T	GRCh37
NC_000006.10:g.32257377C>T	NCBI36
NG_029868.1:g.7701G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.975G>A MANE Select	ENSP00000364217.4:p.Glu325=
ENST00000375055.6:c.975G>A	ENSP00000364195.2:p.Glu325=
ENST00000375065.6:c.162G>A	ENSP00000364206.6:p.Glu54=
ENST00000375067.7:c.820G>A	ENSP00000364208.3:p.Gly274Arg
ENST00000375069.7:c.1023G>A	ENSP00000364210.4:p.Glu341=
ENST00000375070.7:c.662-145G>A	ENSP00000364211.4:n.662-145G>A
ENST00000375076.8:c.975G>A	ENSP00000364217.4:p.Glu325=
ENST00000438221.6:c.1023G>A	ENSP00000387887.2:p.Glu341=
ENST00000469940.5:n.14G>A
ENST00000473619.5:n.517G>A
ENST00000484849.5:n.1182G>A
ENST00000488669.5:n.517G>A
ENST00000620802.4:c.283-189G>A	ENSP00000484081.1:n.283-189G>A
NM_001136.4:c.975G>A	NP_001127.1:p.Glu325=
NM_001206929.1:c.1023G>A	NP_001193858.1:p.Glu341=
NM_001206932.1:c.933G>A	NP_001193861.1:p.Glu311=
NM_001206934.1:c.1023G>A	NP_001193863.1:p.Glu341=
NM_001206936.1:c.923G>A	NP_001193865.1:p.Arg308Lys
NM_001206940.1:c.975G>A	NP_001193869.1:p.Glu325=
NM_001206954.1:c.833G>A	NP_001193883.1:p.Arg278Lys
NM_001206966.1:c.975G>A	NP_001193895.1:p.Glu325=
NM_172197.2:c.820G>A	NP_751947.1:p.Gly274Arg
NR_038190.1:n.1258G>A
XM_017010328.2:c.974G>A	XP_016865817.1:p.Arg325Lys
XR_001743189.2:n.1039G>A
XR_001743190.2:n.991G>A
NM_001136.5:c.975G>A MANE Select	NP_001127.1:p.Glu325=
NM_001206932.2:c.933G>A	NP_001193861.1:p.Glu311=
NM_001206936.2:c.923G>A	NP_001193865.1:p.Arg308Lys
NM_001206940.2:c.975G>A	NP_001193869.1:p.Glu325=
NM_001206954.2:c.833G>A	NP_001193883.1:p.Arg278Lys
NM_001206966.2:c.975G>A	NP_001193895.1:p.Glu325=
NM_172197.3:c.820G>A	NP_751947.1:p.Gly274Arg
NR_038190.2:n.1189G>A
NM_001206929.2:c.1023G>A	NP_001193858.1:p.Glu341=
NM_001206934.2:c.1023G>A	NP_001193863.1:p.Glu341=