Canonical Allele Identifier: CA363510875

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149386C>T (hg19) ; chr6:g.32181609C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181609C>T , CM000668.2:g.32181609C>T	GRCh38
NC_000006.11:g.32149386C>T , CM000668.1:g.32149386C>T	GRCh37
NC_000006.10:g.32257364C>T	NCBI36
NG_029868.1:g.7714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.988G>A MANE Select	ENSP00000364217.4:p.Ala330Thr
ENST00000375055.6:c.988G>A	ENSP00000364195.2:p.Ala330Thr
ENST00000375065.6:c.175G>A	ENSP00000364206.6:p.Ala59Thr
ENST00000375067.7:c.833G>A	ENSP00000364208.3:p.Cys278Tyr
ENST00000375069.7:c.1036G>A	ENSP00000364210.4:p.Ala346Thr
ENST00000375070.7:c.662-132G>A	ENSP00000364211.4:n.662-132G>A
ENST00000375076.8:c.988G>A	ENSP00000364217.4:p.Ala330Thr
ENST00000438221.6:c.1036G>A	ENSP00000387887.2:p.Ala346Thr
ENST00000469940.5:n.27G>A
ENST00000473619.5:n.530G>A
ENST00000484849.5:n.1195G>A
ENST00000488669.5:n.530G>A
ENST00000620802.4:c.283-176G>A	ENSP00000484081.1:n.283-176G>A
NM_001136.4:c.988G>A	NP_001127.1:p.Ala330Thr
NM_001206929.1:c.1036G>A	NP_001193858.1:p.Ala346Thr
NM_001206932.1:c.946G>A	NP_001193861.1:p.Ala316Thr
NM_001206934.1:c.1036G>A	NP_001193863.1:p.Ala346Thr
NM_001206936.1:c.936G>A	NP_001193865.1:p.Leu312=
NM_001206940.1:c.988G>A	NP_001193869.1:p.Ala330Thr
NM_001206954.1:c.846G>A	NP_001193883.1:p.Leu282=
NM_001206966.1:c.988G>A	NP_001193895.1:p.Ala330Thr
NM_172197.2:c.833G>A	NP_751947.1:p.Cys278Tyr
NR_038190.1:n.1271G>A
XM_017010328.2:c.987G>A	XP_016865817.1:p.Leu329=
XR_001743189.2:n.1052G>A
XR_001743190.2:n.1004G>A
NM_001136.5:c.988G>A MANE Select	NP_001127.1:p.Ala330Thr
NM_001206932.2:c.946G>A	NP_001193861.1:p.Ala316Thr
NM_001206936.2:c.936G>A	NP_001193865.1:p.Leu312=
NM_001206940.2:c.988G>A	NP_001193869.1:p.Ala330Thr
NM_001206954.2:c.846G>A	NP_001193883.1:p.Leu282=
NM_001206966.2:c.988G>A	NP_001193895.1:p.Ala330Thr
NM_172197.3:c.833G>A	NP_751947.1:p.Cys278Tyr
NR_038190.2:n.1202G>A
NM_001206929.2:c.1036G>A	NP_001193858.1:p.Ala346Thr
NM_001206934.2:c.1036G>A	NP_001193863.1:p.Ala346Thr