Canonical Allele Identifier: CA2678126953

Gene: AGER

Linked Data

• gnomAD v4: 6-32181515-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181515A>G , CM000668.2:g.32181515A>G	GRCh38
NC_000006.11:g.32149292A>G , CM000668.1:g.32149292A>G	GRCh37
NC_000006.10:g.32257270A>G	NCBI36
NG_029868.1:g.7808T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.992-38T>C MANE Select	ENSP00000364217.4:n.992-38T>C
ENST00000375055.6:c.*29+9T>C	ENSP00000364195.2:n.*29+9T>C
ENST00000375065.6:c.179-38T>C	ENSP00000364206.6:n.179-38T>C
ENST00000375067.7:c.837-38T>C	ENSP00000364208.3:n.837-38T>C
ENST00000375069.7:c.1040-38T>C	ENSP00000364210.4:n.1040-38T>C
ENST00000375070.7:c.662-38T>C	ENSP00000364211.4:n.662-38T>C
ENST00000375076.8:c.992-38T>C	ENSP00000364217.4:n.992-38T>C
ENST00000438221.6:c.*29+9T>C	ENSP00000387887.2:n.*29+9T>C
ENST00000469940.5:n.121T>C
ENST00000473619.5:n.534-38T>C
ENST00000484849.5:n.1199-38T>C
ENST00000488669.5:n.615+9T>C
ENST00000620802.4:c.283-82T>C	ENSP00000484081.1:n.283-82T>C
NM_001136.4:c.992-38T>C	NP_001127.1:n.992-38T>C
NM_001206929.1:c.1040-38T>C	NP_001193858.1:n.1040-38T>C
NM_001206932.1:c.950-38T>C	NP_001193861.1:n.950-38T>C
NM_001206934.1:c.*29+9T>C	NP_001193863.1:n.*29+9T>C
NM_001206936.1:c.1021+9T>C	NP_001193865.1:n.1021+9T>C
NM_001206940.1:c.*29+9T>C	NP_001193869.1:n.*29+9T>C
NM_001206954.1:c.931+9T>C	NP_001193883.1:n.931+9T>C
NM_001206966.1:c.*29+9T>C	NP_001193895.1:n.*29+9T>C
NM_172197.2:c.837-38T>C	NP_751947.1:n.837-38T>C
NR_038190.1:n.1275-38T>C
XM_017010328.2:c.1072+9T>C	XP_016865817.1:n.1072+9T>C
XR_001743189.2:n.1056-38T>C
XR_001743190.2:n.1008-38T>C
NM_001136.5:c.992-38T>C MANE Select	NP_001127.1:n.992-38T>C
NM_001206932.2:c.950-38T>C	NP_001193861.1:n.950-38T>C
NM_001206936.2:c.1021+9T>C	NP_001193865.1:n.1021+9T>C
NM_001206940.2:c.*29+9T>C	NP_001193869.1:n.*29+9T>C
NM_001206954.2:c.931+9T>C	NP_001193883.1:n.931+9T>C
NM_001206966.2:c.*29+9T>C	NP_001193895.1:n.*29+9T>C
NM_172197.3:c.837-38T>C	NP_751947.1:n.837-38T>C
NR_038190.2:n.1206-38T>C
NM_001206929.2:c.1040-38T>C	NP_001193858.1:n.1040-38T>C
NM_001206934.2:c.*29+9T>C	NP_001193863.1:n.*29+9T>C