Canonical Allele Identifier: CA2770520126

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181536G>A , CM000668.2:g.32181536G>A	GRCh38
NC_000006.11:g.32149313G>A , CM000668.1:g.32149313G>A	GRCh37
NC_000006.10:g.32257291G>A	NCBI36
NG_029868.1:g.7787C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.992-59C>T MANE Select	ENSP00000364217.4:n.992-59C>T
ENST00000375055.6:c.*17C>T	ENSP00000364195.2:n.*17C>T
ENST00000375065.6:c.179-59C>T	ENSP00000364206.6:n.179-59C>T
ENST00000375067.7:c.837-59C>T	ENSP00000364208.3:n.837-59C>T
ENST00000375069.7:c.1040-59C>T	ENSP00000364210.4:n.1040-59C>T
ENST00000375070.7:c.662-59C>T	ENSP00000364211.4:n.662-59C>T
ENST00000375076.8:c.992-59C>T	ENSP00000364217.4:n.992-59C>T
ENST00000438221.6:c.*17C>T	ENSP00000387887.2:n.*17C>T
ENST00000469940.5:n.100C>T
ENST00000473619.5:n.534-59C>T
ENST00000484849.5:n.1199-59C>T
ENST00000488669.5:n.603C>T
ENST00000620802.4:c.283-103C>T	ENSP00000484081.1:n.283-103C>T
NM_001136.4:c.992-59C>T	NP_001127.1:n.992-59C>T
NM_001206929.1:c.1040-59C>T	NP_001193858.1:n.1040-59C>T
NM_001206932.1:c.950-59C>T	NP_001193861.1:n.950-59C>T
NM_001206934.1:c.*17C>T	NP_001193863.1:n.*17C>T
NM_001206936.1:c.1009C>T	NP_001193865.1:p.Gln337Ter
NM_001206940.1:c.*17C>T	NP_001193869.1:n.*17C>T
NM_001206954.1:c.919C>T	NP_001193883.1:p.Gln307Ter
NM_001206966.1:c.*17C>T	NP_001193895.1:n.*17C>T
NM_172197.2:c.837-59C>T	NP_751947.1:n.837-59C>T
NR_038190.1:n.1275-59C>T
XM_017010328.2:c.1060C>T	XP_016865817.1:p.Gln354Ter
XR_001743189.2:n.1056-59C>T
XR_001743190.2:n.1008-59C>T
NM_001136.5:c.992-59C>T MANE Select	NP_001127.1:n.992-59C>T
NM_001206932.2:c.950-59C>T	NP_001193861.1:n.950-59C>T
NM_001206936.2:c.1009C>T	NP_001193865.1:p.Gln337Ter
NM_001206940.2:c.*17C>T	NP_001193869.1:n.*17C>T
NM_001206954.2:c.919C>T	NP_001193883.1:p.Gln307Ter
NM_001206966.2:c.*17C>T	NP_001193895.1:n.*17C>T
NM_172197.3:c.837-59C>T	NP_751947.1:n.837-59C>T
NR_038190.2:n.1206-59C>T
NM_001206929.2:c.1040-59C>T	NP_001193858.1:n.1040-59C>T
NM_001206934.2:c.*17C>T	NP_001193863.1:n.*17C>T