Canonical Allele Identifier: CA363509755

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149131T>A (hg19) ; chr6:g.32181354T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181354T>A , CM000668.2:g.32181354T>A	GRCh38
NC_000006.11:g.32149131T>A , CM000668.1:g.32149131T>A	GRCh37
NC_000006.10:g.32257109T>A	NCBI36
NG_029868.1:g.7969A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1115A>T MANE Select	ENSP00000364217.4:p.Glu372Val
ENST00000375055.6:c.*30-115A>T	ENSP00000364195.2:n.*30-115A>T
ENST00000375065.6:c.302A>T	ENSP00000364206.6:p.Glu101Val
ENST00000375067.7:c.960A>T	ENSP00000364208.3:p.Gly320=
ENST00000375069.7:c.1163A>T	ENSP00000364210.4:p.Glu388Val
ENST00000375070.7:c.785A>T	ENSP00000364211.4:p.Glu262Val
ENST00000375076.8:c.1115A>T	ENSP00000364217.4:p.Glu372Val
ENST00000438221.6:c.*30-115A>T	ENSP00000387887.2:n.*30-115A>T
ENST00000469940.5:n.282A>T
ENST00000473619.5:n.657A>T
ENST00000484849.5:n.1322A>T
ENST00000488669.5:n.616-115A>T
ENST00000620802.4:c.362A>T	ENSP00000484081.1:p.Glu121Val
NM_001136.4:c.1115A>T	NP_001127.1:p.Glu372Val
NM_001206929.1:c.1163A>T	NP_001193858.1:p.Glu388Val
NM_001206932.1:c.1073A>T	NP_001193861.1:p.Glu358Val
NM_001206934.1:c.*30-115A>T	NP_001193863.1:n.*30-115A>T
NM_001206936.1:c.1022-115A>T	NP_001193865.1:n.1022-115A>T
NM_001206940.1:c.*30-115A>T	NP_001193869.1:n.*30-115A>T
NM_001206954.1:c.932-115A>T	NP_001193883.1:n.932-115A>T
NM_001206966.1:c.*29+170A>T	NP_001193895.1:n.*29+170A>T
NM_172197.2:c.960A>T	NP_751947.1:p.Gly320=
NR_038190.1:n.1398A>T
XM_017010328.2:c.1073-115A>T	XP_016865817.1:n.1073-115A>T
XR_001743189.2:n.1179A>T
XR_001743190.2:n.1131A>T
NM_001136.5:c.1115A>T MANE Select	NP_001127.1:p.Glu372Val
NM_001206932.2:c.1073A>T	NP_001193861.1:p.Glu358Val
NM_001206936.2:c.1022-115A>T	NP_001193865.1:n.1022-115A>T
NM_001206940.2:c.*30-115A>T	NP_001193869.1:n.*30-115A>T
NM_001206954.2:c.932-115A>T	NP_001193883.1:n.932-115A>T
NM_001206966.2:c.*29+170A>T	NP_001193895.1:n.*29+170A>T
NM_172197.3:c.960A>T	NP_751947.1:p.Gly320=
NR_038190.2:n.1329A>T
NM_001206929.2:c.1163A>T	NP_001193858.1:p.Glu388Val
NM_001206934.2:c.*30-115A>T	NP_001193863.1:n.*30-115A>T