Canonical Allele Identifier: CA363513002

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150041A>G (hg19) ; chr6:g.32182264A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182264A>G , CM000668.2:g.32182264A>G	GRCh38
NC_000006.11:g.32150041A>G , CM000668.1:g.32150041A>G	GRCh37
NC_000006.10:g.32258019A>G	NCBI36
NG_029868.1:g.7059T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.947T>C MANE Select	ENSP00000364217.4:p.Val316Ala
ENST00000375055.6:c.947T>C	ENSP00000364195.2:p.Val316Ala
ENST00000375065.6:c.134T>C	ENSP00000364206.6:p.Val45Ala
ENST00000375067.7:c.809+275T>C	ENSP00000364208.3:n.809+275T>C
ENST00000375069.7:c.995T>C	ENSP00000364210.4:p.Val332Ala
ENST00000375070.7:c.644T>C	ENSP00000364211.4:p.Val215Ala
ENST00000375076.8:c.947T>C	ENSP00000364217.4:p.Val316Ala
ENST00000438221.6:c.995T>C	ENSP00000387887.2:p.Val332Ala
ENST00000473619.5:n.489T>C
ENST00000484849.5:n.1154T>C
ENST00000488669.5:n.489T>C
ENST00000620802.4:c.283-831T>C	ENSP00000484081.1:n.283-831T>C
NM_001136.4:c.947T>C	NP_001127.1:p.Val316Ala
NM_001206929.1:c.995T>C	NP_001193858.1:p.Val332Ala
NM_001206932.1:c.905T>C	NP_001193861.1:p.Val302Ala
NM_001206934.1:c.995T>C	NP_001193863.1:p.Val332Ala
NM_001206936.1:c.895T>C	NP_001193865.1:p.Ser299Pro
NM_001206940.1:c.947T>C	NP_001193869.1:p.Val316Ala
NM_001206954.1:c.822+304T>C	NP_001193883.1:n.822+304T>C
NM_001206966.1:c.947T>C	NP_001193895.1:p.Val316Ala
NM_172197.2:c.809+275T>C	NP_751947.1:n.809+275T>C
NR_038190.1:n.1230T>C
XM_017010328.2:c.963+304T>C	XP_016865817.1:n.963+304T>C
XR_001743189.2:n.1028+304T>C
XR_001743190.2:n.980+304T>C
NM_001136.5:c.947T>C MANE Select	NP_001127.1:p.Val316Ala
NM_001206932.2:c.905T>C	NP_001193861.1:p.Val302Ala
NM_001206936.2:c.895T>C	NP_001193865.1:p.Ser299Pro
NM_001206940.2:c.947T>C	NP_001193869.1:p.Val316Ala
NM_001206954.2:c.822+304T>C	NP_001193883.1:n.822+304T>C
NM_001206966.2:c.947T>C	NP_001193895.1:p.Val316Ala
NM_172197.3:c.809+275T>C	NP_751947.1:n.809+275T>C
NR_038190.2:n.1161T>C
NM_001206929.2:c.995T>C	NP_001193858.1:p.Val332Ala
NM_001206934.2:c.995T>C	NP_001193863.1:p.Val332Ala