Canonical Allele Identifier: CA363510870

Gene: AGER

Linked Data

• dbSNP Id: rs2127433782
• MyVariant Identifiers: chr6:g.32149385G>T (hg19) ; chr6:g.32181608G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181608G>T , CM000668.2:g.32181608G>T	GRCh38
NC_000006.11:g.32149385G>T , CM000668.1:g.32149385G>T	GRCh37
NC_000006.10:g.32257363G>T	NCBI36
NG_029868.1:g.7715C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.989C>A MANE Select	ENSP00000364217.4:p.Ala330Glu
ENST00000375055.6:c.989C>A	ENSP00000364195.2:p.Ala330Glu
ENST00000375065.6:c.176C>A	ENSP00000364206.6:p.Ala59Glu
ENST00000375067.7:c.834C>A	ENSP00000364208.3:p.Cys278Ter
ENST00000375069.7:c.1037C>A	ENSP00000364210.4:p.Ala346Glu
ENST00000375070.7:c.662-131C>A	ENSP00000364211.4:n.662-131C>A
ENST00000375076.8:c.989C>A	ENSP00000364217.4:p.Ala330Glu
ENST00000438221.6:c.1037C>A	ENSP00000387887.2:p.Ala346Glu
ENST00000469940.5:n.28C>A
ENST00000473619.5:n.531C>A
ENST00000484849.5:n.1196C>A
ENST00000488669.5:n.531C>A
ENST00000620802.4:c.283-175C>A	ENSP00000484081.1:n.283-175C>A
NM_001136.4:c.989C>A	NP_001127.1:p.Ala330Glu
NM_001206929.1:c.1037C>A	NP_001193858.1:p.Ala346Glu
NM_001206932.1:c.947C>A	NP_001193861.1:p.Ala316Glu
NM_001206934.1:c.1037C>A	NP_001193863.1:p.Ala346Glu
NM_001206936.1:c.937C>A	NP_001193865.1:p.Gln313Lys
NM_001206940.1:c.989C>A	NP_001193869.1:p.Ala330Glu
NM_001206954.1:c.847C>A	NP_001193883.1:p.Gln283Lys
NM_001206966.1:c.989C>A	NP_001193895.1:p.Ala330Glu
NM_172197.2:c.834C>A	NP_751947.1:p.Cys278Ter
NR_038190.1:n.1272C>A
XM_017010328.2:c.988C>A	XP_016865817.1:p.Gln330Lys
XR_001743189.2:n.1053C>A
XR_001743190.2:n.1005C>A
NM_001136.5:c.989C>A MANE Select	NP_001127.1:p.Ala330Glu
NM_001206932.2:c.947C>A	NP_001193861.1:p.Ala316Glu
NM_001206936.2:c.937C>A	NP_001193865.1:p.Gln313Lys
NM_001206940.2:c.989C>A	NP_001193869.1:p.Ala330Glu
NM_001206954.2:c.847C>A	NP_001193883.1:p.Gln283Lys
NM_001206966.2:c.989C>A	NP_001193895.1:p.Ala330Glu
NM_172197.3:c.834C>A	NP_751947.1:p.Cys278Ter
NR_038190.2:n.1203C>A
NM_001206929.2:c.1037C>A	NP_001193858.1:p.Ala346Glu
NM_001206934.2:c.1037C>A	NP_001193863.1:p.Ala346Glu