Canonical Allele Identifier: CA2678121292

Gene: AGER

Linked Data

• gnomAD v4: 6-32183475-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183475G>A , CM000668.2:g.32183475G>A	GRCh38
NC_000006.11:g.32151252G>A , CM000668.1:g.32151252G>A	GRCh37
NC_000006.10:g.32259230G>A	NCBI36
NG_029868.1:g.5848C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.355+80C>T MANE Select	ENSP00000364217.4:n.355+80C>T
ENST00000375055.6:c.355+80C>T	ENSP00000364195.2:n.355+80C>T
ENST00000375056.6:c.355+80C>T	ENSP00000364196.2:n.355+80C>T
ENST00000375065.6:c.-182+483C>T	ENSP00000364206.6:n.-182+483C>T
ENST00000375067.7:c.313+80C>T	ENSP00000364208.3:n.313+80C>T
ENST00000375069.7:c.355+80C>T	ENSP00000364210.4:n.355+80C>T
ENST00000375070.7:c.52+80C>T	ENSP00000364211.4:n.52+80C>T
ENST00000375076.8:c.355+80C>T	ENSP00000364217.4:n.355+80C>T
ENST00000438221.6:c.355+80C>T	ENSP00000387887.2:n.355+80C>T
ENST00000450110.5:c.343-35C>T	ENSP00000398466.1:n.343-35C>T
ENST00000484849.5:n.562+80C>T
ENST00000538695.2:c.356-35C>T	ENSP00000445389.1:n.356-35C>T
ENST00000620802.4:c.282+153C>T	ENSP00000484081.1:n.282+153C>T
NM_001136.4:c.355+80C>T	NP_001127.1:n.355+80C>T
NM_001206929.1:c.355+80C>T	NP_001193858.1:n.355+80C>T
NM_001206932.1:c.313+80C>T	NP_001193861.1:n.313+80C>T
NM_001206934.1:c.355+80C>T	NP_001193863.1:n.355+80C>T
NM_001206936.1:c.355+80C>T	NP_001193865.1:n.355+80C>T
NM_001206940.1:c.355+80C>T	NP_001193869.1:n.355+80C>T
NM_001206954.1:c.355+80C>T	NP_001193883.1:n.355+80C>T
NM_001206966.1:c.355+80C>T	NP_001193895.1:n.355+80C>T
NM_172197.2:c.313+80C>T	NP_751947.1:n.313+80C>T
NR_038190.1:n.638+80C>T
XM_017010328.2:c.448+80C>T	XP_016865817.1:n.448+80C>T
XR_001743189.2:n.513+80C>T
XR_001743190.2:n.513+80C>T
NM_001136.5:c.355+80C>T MANE Select	NP_001127.1:n.355+80C>T
NM_001206932.2:c.313+80C>T	NP_001193861.1:n.313+80C>T
NM_001206936.2:c.355+80C>T	NP_001193865.1:n.355+80C>T
NM_001206940.2:c.355+80C>T	NP_001193869.1:n.355+80C>T
NM_001206954.2:c.355+80C>T	NP_001193883.1:n.355+80C>T
NM_001206966.2:c.355+80C>T	NP_001193895.1:n.355+80C>T
NM_172197.3:c.313+80C>T	NP_751947.1:n.313+80C>T
NR_038190.2:n.569+80C>T
NM_001206929.2:c.355+80C>T	NP_001193858.1:n.355+80C>T
NM_001206934.2:c.355+80C>T	NP_001193863.1:n.355+80C>T