Canonical Allele Identifier: CA1619451351

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181474G= , CM000668.2:g.32181474G=	GRCh38
NC_000006.11:g.32149251G= , CM000668.1:g.32149251G=	GRCh37
NC_000006.10:g.32257229G=	NCBI36
NG_029868.1:g.7849C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.995C= MANE Select	ENSP00000364217.4:p.Ser332=
ENST00000375055.6:c.*29+50C=	ENSP00000364195.2:n.*29+50C=
ENST00000375065.6:c.182C=	ENSP00000364206.6:p.Ser61=
ENST00000375067.7:c.840C=	ENSP00000364208.3:p.Leu280=
ENST00000375069.7:c.1043C=	ENSP00000364210.4:p.Ser348=
ENST00000375070.7:c.665C=	ENSP00000364211.4:p.Ser222=
ENST00000375076.8:c.995C=	ENSP00000364217.4:p.Ser332=
ENST00000438221.6:c.*29+50C=	ENSP00000387887.2:n.*29+50C=
ENST00000469940.5:n.162C=
ENST00000473619.5:n.537C=
ENST00000484849.5:n.1202C=
ENST00000488669.5:n.615+50C=
ENST00000620802.4:c.283-41C=	ENSP00000484081.1:n.283-41C=
NM_001136.4:c.995C=	NP_001127.1:p.Ser332=
NM_001206929.1:c.1043C=	NP_001193858.1:p.Ser348=
NM_001206932.1:c.953C=	NP_001193861.1:p.Ser318=
NM_001206934.1:c.*29+50C=	NP_001193863.1:n.*29+50C=
NM_001206936.1:c.1021+50C=	NP_001193865.1:n.1021+50C=
NM_001206940.1:c.*29+50C=	NP_001193869.1:n.*29+50C=
NM_001206954.1:c.931+50C=	NP_001193883.1:n.931+50C=
NM_001206966.1:c.*29+50C=	NP_001193895.1:n.*29+50C=
NM_172197.2:c.840C=	NP_751947.1:p.Leu280=
NR_038190.1:n.1278C=
XM_017010328.2:c.1072+50C=	XP_016865817.1:n.1072+50C=
XR_001743189.2:n.1059C=
XR_001743190.2:n.1011C=
NM_001136.5:c.995C= MANE Select	NP_001127.1:p.Ser332=
NM_001206932.2:c.953C=	NP_001193861.1:p.Ser318=
NM_001206936.2:c.1021+50C=	NP_001193865.1:n.1021+50C=
NM_001206940.2:c.*29+50C=	NP_001193869.1:n.*29+50C=
NM_001206954.2:c.931+50C=	NP_001193883.1:n.931+50C=
NM_001206966.2:c.*29+50C=	NP_001193895.1:n.*29+50C=
NM_172197.3:c.840C=	NP_751947.1:p.Leu280=
NR_038190.2:n.1209C=
NM_001206929.2:c.1043C=	NP_001193858.1:p.Ser348=
NM_001206934.2:c.*29+50C=	NP_001193863.1:n.*29+50C=