Canonical Allele Identifier: CA363513071

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150053T>G (hg19) ; chr6:g.32182276T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182276T>G , CM000668.2:g.32182276T>G	GRCh38
NC_000006.11:g.32150053T>G , CM000668.1:g.32150053T>G	GRCh37
NC_000006.10:g.32258031T>G	NCBI36
NG_029868.1:g.7047A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.935A>C MANE Select	ENSP00000364217.4:p.Glu312Ala
ENST00000375055.6:c.935A>C	ENSP00000364195.2:p.Glu312Ala
ENST00000375065.6:c.122A>C	ENSP00000364206.6:p.Glu41Ala
ENST00000375067.7:c.809+263A>C	ENSP00000364208.3:n.809+263A>C
ENST00000375069.7:c.983A>C	ENSP00000364210.4:p.Glu328Ala
ENST00000375070.7:c.632A>C	ENSP00000364211.4:p.Glu211Ala
ENST00000375076.8:c.935A>C	ENSP00000364217.4:p.Glu312Ala
ENST00000438221.6:c.983A>C	ENSP00000387887.2:p.Glu328Ala
ENST00000473619.5:n.477A>C
ENST00000484849.5:n.1142A>C
ENST00000488669.5:n.477A>C
ENST00000620802.4:c.283-843A>C	ENSP00000484081.1:n.283-843A>C
NM_001136.4:c.935A>C	NP_001127.1:p.Glu312Ala
NM_001206929.1:c.983A>C	NP_001193858.1:p.Glu328Ala
NM_001206932.1:c.893A>C	NP_001193861.1:p.Glu298Ala
NM_001206934.1:c.983A>C	NP_001193863.1:p.Glu328Ala
NM_001206936.1:c.883A>C	NP_001193865.1:p.Lys295Gln
NM_001206940.1:c.935A>C	NP_001193869.1:p.Glu312Ala
NM_001206954.1:c.822+292A>C	NP_001193883.1:n.822+292A>C
NM_001206966.1:c.935A>C	NP_001193895.1:p.Glu312Ala
NM_172197.2:c.809+263A>C	NP_751947.1:n.809+263A>C
NR_038190.1:n.1218A>C
XM_017010328.2:c.963+292A>C	XP_016865817.1:n.963+292A>C
XR_001743189.2:n.1028+292A>C
XR_001743190.2:n.980+292A>C
NM_001136.5:c.935A>C MANE Select	NP_001127.1:p.Glu312Ala
NM_001206932.2:c.893A>C	NP_001193861.1:p.Glu298Ala
NM_001206936.2:c.883A>C	NP_001193865.1:p.Lys295Gln
NM_001206940.2:c.935A>C	NP_001193869.1:p.Glu312Ala
NM_001206954.2:c.822+292A>C	NP_001193883.1:n.822+292A>C
NM_001206966.2:c.935A>C	NP_001193895.1:p.Glu312Ala
NM_172197.3:c.809+263A>C	NP_751947.1:n.809+263A>C
NR_038190.2:n.1149A>C
NM_001206929.2:c.983A>C	NP_001193858.1:p.Glu328Ala
NM_001206934.2:c.983A>C	NP_001193863.1:p.Glu328Ala