Canonical Allele Identifier: CA2678127931

Gene: AGER

Linked Data

• gnomAD v4: 6-32182102-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182102G>T , CM000668.2:g.32182102G>T	GRCh38
NC_000006.11:g.32149879G>T , CM000668.1:g.32149879G>T	GRCh37
NC_000006.10:g.32257857G>T	NCBI36
NG_029868.1:g.7221C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.964+145C>A MANE Select	ENSP00000364217.4:n.964+145C>A
ENST00000375055.6:c.964+145C>A	ENSP00000364195.2:n.964+145C>A
ENST00000375065.6:c.151+145C>A	ENSP00000364206.6:n.151+145C>A
ENST00000375067.7:c.809+437C>A	ENSP00000364208.3:n.809+437C>A
ENST00000375069.7:c.1012+145C>A	ENSP00000364210.4:n.1012+145C>A
ENST00000375070.7:c.661+145C>A	ENSP00000364211.4:n.661+145C>A
ENST00000375076.8:c.964+145C>A	ENSP00000364217.4:n.964+145C>A
ENST00000438221.6:c.1012+145C>A	ENSP00000387887.2:n.1012+145C>A
ENST00000473619.5:n.506+145C>A
ENST00000484849.5:n.1171+145C>A
ENST00000488669.5:n.506+145C>A
ENST00000620802.4:c.283-669C>A	ENSP00000484081.1:n.283-669C>A
NM_001136.4:c.964+145C>A	NP_001127.1:n.964+145C>A
NM_001206929.1:c.1012+145C>A	NP_001193858.1:n.1012+145C>A
NM_001206932.1:c.922+145C>A	NP_001193861.1:n.922+145C>A
NM_001206934.1:c.1012+145C>A	NP_001193863.1:n.1012+145C>A
NM_001206936.1:c.912+145C>A	NP_001193865.1:n.912+145C>A
NM_001206940.1:c.964+145C>A	NP_001193869.1:n.964+145C>A
NM_001206954.1:c.822+466C>A	NP_001193883.1:n.822+466C>A
NM_001206966.1:c.964+145C>A	NP_001193895.1:n.964+145C>A
NM_172197.2:c.809+437C>A	NP_751947.1:n.809+437C>A
NR_038190.1:n.1247+145C>A
XM_017010328.2:c.963+466C>A	XP_016865817.1:n.963+466C>A
XR_001743189.2:n.1028+466C>A
XR_001743190.2:n.980+466C>A
NM_001136.5:c.964+145C>A MANE Select	NP_001127.1:n.964+145C>A
NM_001206932.2:c.922+145C>A	NP_001193861.1:n.922+145C>A
NM_001206936.2:c.912+145C>A	NP_001193865.1:n.912+145C>A
NM_001206940.2:c.964+145C>A	NP_001193869.1:n.964+145C>A
NM_001206954.2:c.822+466C>A	NP_001193883.1:n.822+466C>A
NM_001206966.2:c.964+145C>A	NP_001193895.1:n.964+145C>A
NM_172197.3:c.809+437C>A	NP_751947.1:n.809+437C>A
NR_038190.2:n.1178+145C>A
NM_001206929.2:c.1012+145C>A	NP_001193858.1:n.1012+145C>A
NM_001206934.2:c.1012+145C>A	NP_001193863.1:n.1012+145C>A