Canonical Allele Identifier: CA1619451869

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182261C= , CM000668.2:g.32182261C=	GRCh38
NC_000006.11:g.32150038C= , CM000668.1:g.32150038C=	GRCh37
NC_000006.10:g.32258016C=	NCBI36
NG_029868.1:g.7062G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.950G= MANE Select	ENSP00000364217.4:p.Ser317=
ENST00000375055.6:c.950G=	ENSP00000364195.2:p.Ser317=
ENST00000375065.6:c.137G=	ENSP00000364206.6:p.Ser46=
ENST00000375067.7:c.809+278G=	ENSP00000364208.3:n.809+278G=
ENST00000375069.7:c.998G=	ENSP00000364210.4:p.Ser333=
ENST00000375070.7:c.647G=	ENSP00000364211.4:p.Ser216=
ENST00000375076.8:c.950G=	ENSP00000364217.4:p.Ser317=
ENST00000438221.6:c.998G=	ENSP00000387887.2:p.Ser333=
ENST00000473619.5:n.492G=
ENST00000484849.5:n.1157G=
ENST00000488669.5:n.492G=
ENST00000620802.4:c.283-828G=	ENSP00000484081.1:n.283-828G=
NM_001136.4:c.950G=	NP_001127.1:p.Ser317=
NM_001206929.1:c.998G=	NP_001193858.1:p.Ser333=
NM_001206932.1:c.908G=	NP_001193861.1:p.Ser303=
NM_001206934.1:c.998G=	NP_001193863.1:p.Ser333=
NM_001206936.1:c.898G=	NP_001193865.1:p.Ala300=
NM_001206940.1:c.950G=	NP_001193869.1:p.Ser317=
NM_001206954.1:c.822+307G=	NP_001193883.1:n.822+307G=
NM_001206966.1:c.950G=	NP_001193895.1:p.Ser317=
NM_172197.2:c.809+278G=	NP_751947.1:n.809+278G=
NR_038190.1:n.1233G=
XM_017010328.2:c.963+307G=	XP_016865817.1:n.963+307G=
XR_001743189.2:n.1028+307G=
XR_001743190.2:n.980+307G=
NM_001136.5:c.950G= MANE Select	NP_001127.1:p.Ser317=
NM_001206932.2:c.908G=	NP_001193861.1:p.Ser303=
NM_001206936.2:c.898G=	NP_001193865.1:p.Ala300=
NM_001206940.2:c.950G=	NP_001193869.1:p.Ser317=
NM_001206954.2:c.822+307G=	NP_001193883.1:n.822+307G=
NM_001206966.2:c.950G=	NP_001193895.1:p.Ser317=
NM_172197.3:c.809+278G=	NP_751947.1:n.809+278G=
NR_038190.2:n.1164G=
NM_001206929.2:c.998G=	NP_001193858.1:p.Ser333=
NM_001206934.2:c.998G=	NP_001193863.1:p.Ser333=