Canonical Allele Identifier: CA363509932

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149165T>A (hg19) ; chr6:g.32181388T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181388T>A , CM000668.2:g.32181388T>A	GRCh38
NC_000006.11:g.32149165T>A , CM000668.1:g.32149165T>A	GRCh37
NC_000006.10:g.32257143T>A	NCBI36
NG_029868.1:g.7935A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1081A>T MANE Select	ENSP00000364217.4:p.Ile361Phe
ENST00000375055.6:c.*29+136A>T	ENSP00000364195.2:n.*29+136A>T
ENST00000375065.6:c.268A>T	ENSP00000364206.6:p.Ile90Phe
ENST00000375067.7:c.926A>T	ENSP00000364208.3:p.His309Leu
ENST00000375069.7:c.1129A>T	ENSP00000364210.4:p.Ile377Phe
ENST00000375070.7:c.751A>T	ENSP00000364211.4:p.Ile251Phe
ENST00000375076.8:c.1081A>T	ENSP00000364217.4:p.Ile361Phe
ENST00000438221.6:c.*29+136A>T	ENSP00000387887.2:n.*29+136A>T
ENST00000469940.5:n.248A>T
ENST00000473619.5:n.623A>T
ENST00000484849.5:n.1288A>T
ENST00000488669.5:n.615+136A>T
ENST00000620802.4:c.328A>T	ENSP00000484081.1:p.Ile110Phe
NM_001136.4:c.1081A>T	NP_001127.1:p.Ile361Phe
NM_001206929.1:c.1129A>T	NP_001193858.1:p.Ile377Phe
NM_001206932.1:c.1039A>T	NP_001193861.1:p.Ile347Phe
NM_001206934.1:c.*29+136A>T	NP_001193863.1:n.*29+136A>T
NM_001206936.1:c.1021+136A>T	NP_001193865.1:n.1021+136A>T
NM_001206940.1:c.*29+136A>T	NP_001193869.1:n.*29+136A>T
NM_001206954.1:c.931+136A>T	NP_001193883.1:n.931+136A>T
NM_001206966.1:c.*29+136A>T	NP_001193895.1:n.*29+136A>T
NM_172197.2:c.926A>T	NP_751947.1:p.His309Leu
NR_038190.1:n.1364A>T
XM_017010328.2:c.1072+136A>T	XP_016865817.1:n.1072+136A>T
XR_001743189.2:n.1145A>T
XR_001743190.2:n.1097A>T
NM_001136.5:c.1081A>T MANE Select	NP_001127.1:p.Ile361Phe
NM_001206932.2:c.1039A>T	NP_001193861.1:p.Ile347Phe
NM_001206936.2:c.1021+136A>T	NP_001193865.1:n.1021+136A>T
NM_001206940.2:c.*29+136A>T	NP_001193869.1:n.*29+136A>T
NM_001206954.2:c.931+136A>T	NP_001193883.1:n.931+136A>T
NM_001206966.2:c.*29+136A>T	NP_001193895.1:n.*29+136A>T
NM_172197.3:c.926A>T	NP_751947.1:p.His309Leu
NR_038190.2:n.1295A>T
NM_001206929.2:c.1129A>T	NP_001193858.1:p.Ile377Phe
NM_001206934.2:c.*29+136A>T	NP_001193863.1:n.*29+136A>T