Canonical Allele Identifier: CA2678127006

Gene: AGER

Linked Data

• gnomAD v4: 6-32181598-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181598C>A , CM000668.2:g.32181598C>A	GRCh38
NC_000006.11:g.32149375C>A , CM000668.1:g.32149375C>A	GRCh37
NC_000006.10:g.32257353C>A	NCBI36
NG_029868.1:g.7725G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.991+8G>T MANE Select	ENSP00000364217.4:n.991+8G>T
ENST00000375055.6:c.999G>T	ENSP00000364195.2:p.Gly333=
ENST00000375065.6:c.178+8G>T	ENSP00000364206.6:n.178+8G>T
ENST00000375067.7:c.836+8G>T	ENSP00000364208.3:n.836+8G>T
ENST00000375069.7:c.1039+8G>T	ENSP00000364210.4:n.1039+8G>T
ENST00000375070.7:c.662-121G>T	ENSP00000364211.4:n.662-121G>T
ENST00000375076.8:c.991+8G>T	ENSP00000364217.4:n.991+8G>T
ENST00000438221.6:c.1047G>T	ENSP00000387887.2:p.Gly349=
ENST00000469940.5:n.38G>T
ENST00000473619.5:n.533+8G>T
ENST00000484849.5:n.1198+8G>T
ENST00000488669.5:n.541G>T
ENST00000620802.4:c.283-165G>T	ENSP00000484081.1:n.283-165G>T
NM_001136.4:c.991+8G>T	NP_001127.1:n.991+8G>T
NM_001206929.1:c.1039+8G>T	NP_001193858.1:n.1039+8G>T
NM_001206932.1:c.949+8G>T	NP_001193861.1:n.949+8G>T
NM_001206934.1:c.1047G>T	NP_001193863.1:p.Gly349=
NM_001206936.1:c.947G>T	NP_001193865.1:p.Gly316Val
NM_001206940.1:c.999G>T	NP_001193869.1:p.Gly333=
NM_001206954.1:c.857G>T	NP_001193883.1:p.Gly286Val
NM_001206966.1:c.999G>T	NP_001193895.1:p.Gly333=
NM_172197.2:c.836+8G>T	NP_751947.1:n.836+8G>T
NR_038190.1:n.1274+8G>T
XM_017010328.2:c.998G>T	XP_016865817.1:p.Gly333Val
XR_001743189.2:n.1055+8G>T
XR_001743190.2:n.1007+8G>T
NM_001136.5:c.991+8G>T MANE Select	NP_001127.1:n.991+8G>T
NM_001206932.2:c.949+8G>T	NP_001193861.1:n.949+8G>T
NM_001206936.2:c.947G>T	NP_001193865.1:p.Gly316Val
NM_001206940.2:c.999G>T	NP_001193869.1:p.Gly333=
NM_001206954.2:c.857G>T	NP_001193883.1:p.Gly286Val
NM_001206966.2:c.999G>T	NP_001193895.1:p.Gly333=
NM_172197.3:c.836+8G>T	NP_751947.1:n.836+8G>T
NR_038190.2:n.1205+8G>T
NM_001206929.2:c.1039+8G>T	NP_001193858.1:n.1039+8G>T
NM_001206934.2:c.1047G>T	NP_001193863.1:p.Gly349=