Canonical Allele Identifier: CA2678126670

Gene: AGER

Linked Data

• gnomAD v4: 6-32181331-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181331G>A , CM000668.2:g.32181331G>A	GRCh38
NC_000006.11:g.32149108G>A , CM000668.1:g.32149108G>A	GRCh37
NC_000006.10:g.32257086G>A	NCBI36
NG_029868.1:g.7992C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.1118+20C>T MANE Select	ENSP00000364217.4:n.1118+20C>T
ENST00000375055.6:c.*30-92C>T	ENSP00000364195.2:n.*30-92C>T
ENST00000375065.6:c.305+20C>T	ENSP00000364206.6:n.305+20C>T
ENST00000375067.7:c.963+20C>T	ENSP00000364208.3:n.963+20C>T
ENST00000375069.7:c.1166+20C>T	ENSP00000364210.4:n.1166+20C>T
ENST00000375070.7:c.788+20C>T	ENSP00000364211.4:n.788+20C>T
ENST00000375076.8:c.1118+20C>T	ENSP00000364217.4:n.1118+20C>T
ENST00000438221.6:c.*30-92C>T	ENSP00000387887.2:n.*30-92C>T
ENST00000469940.5:n.285+20C>T
ENST00000473619.5:n.660+20C>T
ENST00000484849.5:n.1325+20C>T
ENST00000488669.5:n.616-92C>T
ENST00000620802.4:c.365+20C>T	ENSP00000484081.1:n.365+20C>T
NM_001136.4:c.1118+20C>T	NP_001127.1:n.1118+20C>T
NM_001206929.1:c.1166+20C>T	NP_001193858.1:n.1166+20C>T
NM_001206932.1:c.1076+20C>T	NP_001193861.1:n.1076+20C>T
NM_001206934.1:c.*30-92C>T	NP_001193863.1:n.*30-92C>T
NM_001206936.1:c.1022-92C>T	NP_001193865.1:n.1022-92C>T
NM_001206940.1:c.*30-92C>T	NP_001193869.1:n.*30-92C>T
NM_001206954.1:c.932-92C>T	NP_001193883.1:n.932-92C>T
NM_001206966.1:c.*30-190C>T	NP_001193895.1:n.*30-190C>T
NM_172197.2:c.963+20C>T	NP_751947.1:n.963+20C>T
NR_038190.1:n.1401+20C>T
XM_017010328.2:c.1073-92C>T	XP_016865817.1:n.1073-92C>T
XR_001743189.2:n.1182+20C>T
XR_001743190.2:n.1134+20C>T
NM_001136.5:c.1118+20C>T MANE Select	NP_001127.1:n.1118+20C>T
NM_001206932.2:c.1076+20C>T	NP_001193861.1:n.1076+20C>T
NM_001206936.2:c.1022-92C>T	NP_001193865.1:n.1022-92C>T
NM_001206940.2:c.*30-92C>T	NP_001193869.1:n.*30-92C>T
NM_001206954.2:c.932-92C>T	NP_001193883.1:n.932-92C>T
NM_001206966.2:c.*30-190C>T	NP_001193895.1:n.*30-190C>T
NM_172197.3:c.963+20C>T	NP_751947.1:n.963+20C>T
NR_038190.2:n.1332+20C>T
NM_001206929.2:c.1166+20C>T	NP_001193858.1:n.1166+20C>T
NM_001206934.2:c.*30-92C>T	NP_001193863.1:n.*30-92C>T