Canonical Allele Identifier: CA1619451462

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181630G= , CM000668.2:g.32181630G=	GRCh38
NC_000006.11:g.32149407G= , CM000668.1:g.32149407G=	GRCh37
NC_000006.10:g.32257385G=	NCBI36
NG_029868.1:g.7693C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.967C= MANE Select	ENSP00000364217.4:p.Pro323=
ENST00000375055.6:c.967C=	ENSP00000364195.2:p.Pro323=
ENST00000375065.6:c.154C=	ENSP00000364206.6:p.Pro52=
ENST00000375067.7:c.812C=	ENSP00000364208.3:p.Thr271=
ENST00000375069.7:c.1015C=	ENSP00000364210.4:p.Pro339=
ENST00000375070.7:c.662-153C=	ENSP00000364211.4:n.662-153C=
ENST00000375076.8:c.967C=	ENSP00000364217.4:p.Pro323=
ENST00000438221.6:c.1015C=	ENSP00000387887.2:p.Pro339=
ENST00000469940.5:n.6C=
ENST00000473619.5:n.509C=
ENST00000484849.5:n.1174C=
ENST00000488669.5:n.509C=
ENST00000620802.4:c.283-197C=	ENSP00000484081.1:n.283-197C=
NM_001136.4:c.967C=	NP_001127.1:p.Pro323=
NM_001206929.1:c.1015C=	NP_001193858.1:p.Pro339=
NM_001206932.1:c.925C=	NP_001193861.1:p.Pro309=
NM_001206934.1:c.1015C=	NP_001193863.1:p.Pro339=
NM_001206936.1:c.915C=	NP_001193865.1:p.Asn305=
NM_001206940.1:c.967C=	NP_001193869.1:p.Pro323=
NM_001206954.1:c.825C=	NP_001193883.1:p.Asn275=
NM_001206966.1:c.967C=	NP_001193895.1:p.Pro323=
NM_172197.2:c.812C=	NP_751947.1:p.Thr271=
NR_038190.1:n.1250C=
XM_017010328.2:c.966C=	XP_016865817.1:p.Asn322=
XR_001743189.2:n.1031C=
XR_001743190.2:n.983C=
NM_001136.5:c.967C= MANE Select	NP_001127.1:p.Pro323=
NM_001206932.2:c.925C=	NP_001193861.1:p.Pro309=
NM_001206936.2:c.915C=	NP_001193865.1:p.Asn305=
NM_001206940.2:c.967C=	NP_001193869.1:p.Pro323=
NM_001206954.2:c.825C=	NP_001193883.1:p.Asn275=
NM_001206966.2:c.967C=	NP_001193895.1:p.Pro323=
NM_172197.3:c.812C=	NP_751947.1:p.Thr271=
NR_038190.2:n.1181C=
NM_001206929.2:c.1015C=	NP_001193858.1:p.Pro339=
NM_001206934.2:c.1015C=	NP_001193863.1:p.Pro339=