Canonical Allele Identifier: CA363513021

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150044G>T (hg19) ; chr6:g.32182267G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182267G>T , CM000668.2:g.32182267G>T	GRCh38
NC_000006.11:g.32150044G>T , CM000668.1:g.32150044G>T	GRCh37
NC_000006.10:g.32258022G>T	NCBI36
NG_029868.1:g.7056C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.944C>A MANE Select	ENSP00000364217.4:p.Ala315Asp
ENST00000375055.6:c.944C>A	ENSP00000364195.2:p.Ala315Asp
ENST00000375065.6:c.131C>A	ENSP00000364206.6:p.Ala44Asp
ENST00000375067.7:c.809+272C>A	ENSP00000364208.3:n.809+272C>A
ENST00000375069.7:c.992C>A	ENSP00000364210.4:p.Ala331Asp
ENST00000375070.7:c.641C>A	ENSP00000364211.4:p.Ala214Asp
ENST00000375076.8:c.944C>A	ENSP00000364217.4:p.Ala315Asp
ENST00000438221.6:c.992C>A	ENSP00000387887.2:p.Ala331Asp
ENST00000473619.5:n.486C>A
ENST00000484849.5:n.1151C>A
ENST00000488669.5:n.486C>A
ENST00000620802.4:c.283-834C>A	ENSP00000484081.1:n.283-834C>A
NM_001136.4:c.944C>A	NP_001127.1:p.Ala315Asp
NM_001206929.1:c.992C>A	NP_001193858.1:p.Ala331Asp
NM_001206932.1:c.902C>A	NP_001193861.1:p.Ala301Asp
NM_001206934.1:c.992C>A	NP_001193863.1:p.Ala331Asp
NM_001206936.1:c.892C>A	NP_001193865.1:p.Leu298Met
NM_001206940.1:c.944C>A	NP_001193869.1:p.Ala315Asp
NM_001206954.1:c.822+301C>A	NP_001193883.1:n.822+301C>A
NM_001206966.1:c.944C>A	NP_001193895.1:p.Ala315Asp
NM_172197.2:c.809+272C>A	NP_751947.1:n.809+272C>A
NR_038190.1:n.1227C>A
XM_017010328.2:c.963+301C>A	XP_016865817.1:n.963+301C>A
XR_001743189.2:n.1028+301C>A
XR_001743190.2:n.980+301C>A
NM_001136.5:c.944C>A MANE Select	NP_001127.1:p.Ala315Asp
NM_001206932.2:c.902C>A	NP_001193861.1:p.Ala301Asp
NM_001206936.2:c.892C>A	NP_001193865.1:p.Leu298Met
NM_001206940.2:c.944C>A	NP_001193869.1:p.Ala315Asp
NM_001206954.2:c.822+301C>A	NP_001193883.1:n.822+301C>A
NM_001206966.2:c.944C>A	NP_001193895.1:p.Ala315Asp
NM_172197.3:c.809+272C>A	NP_751947.1:n.809+272C>A
NR_038190.2:n.1158C>A
NM_001206929.2:c.992C>A	NP_001193858.1:p.Ala331Asp
NM_001206934.2:c.992C>A	NP_001193863.1:p.Ala331Asp