Canonical Allele Identifier: CA2678127848

Gene: AGER

Linked Data

• gnomAD v4: 6-32182054-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182054A>G , CM000668.2:g.32182054A>G	GRCh38
NC_000006.11:g.32149831A>G , CM000668.1:g.32149831A>G	GRCh37
NC_000006.10:g.32257809A>G	NCBI36
NG_029868.1:g.7269T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.964+193T>C MANE Select	ENSP00000364217.4:n.964+193T>C
ENST00000375055.6:c.964+193T>C	ENSP00000364195.2:n.964+193T>C
ENST00000375065.6:c.151+193T>C	ENSP00000364206.6:n.151+193T>C
ENST00000375067.7:c.810-422T>C	ENSP00000364208.3:n.810-422T>C
ENST00000375069.7:c.1012+193T>C	ENSP00000364210.4:n.1012+193T>C
ENST00000375070.7:c.661+193T>C	ENSP00000364211.4:n.661+193T>C
ENST00000375076.8:c.964+193T>C	ENSP00000364217.4:n.964+193T>C
ENST00000438221.6:c.1012+193T>C	ENSP00000387887.2:n.1012+193T>C
ENST00000473619.5:n.506+193T>C
ENST00000484849.5:n.1171+193T>C
ENST00000488669.5:n.506+193T>C
ENST00000620802.4:c.283-621T>C	ENSP00000484081.1:n.283-621T>C
NM_001136.4:c.964+193T>C	NP_001127.1:n.964+193T>C
NM_001206929.1:c.1012+193T>C	NP_001193858.1:n.1012+193T>C
NM_001206932.1:c.922+193T>C	NP_001193861.1:n.922+193T>C
NM_001206934.1:c.1012+193T>C	NP_001193863.1:n.1012+193T>C
NM_001206936.1:c.912+193T>C	NP_001193865.1:n.912+193T>C
NM_001206940.1:c.964+193T>C	NP_001193869.1:n.964+193T>C
NM_001206954.1:c.823-422T>C	NP_001193883.1:n.823-422T>C
NM_001206966.1:c.964+193T>C	NP_001193895.1:n.964+193T>C
NM_172197.2:c.810-422T>C	NP_751947.1:n.810-422T>C
NR_038190.1:n.1247+193T>C
XM_017010328.2:c.964-422T>C	XP_016865817.1:n.964-422T>C
XR_001743189.2:n.1029-422T>C
XR_001743190.2:n.981-422T>C
NM_001136.5:c.964+193T>C MANE Select	NP_001127.1:n.964+193T>C
NM_001206932.2:c.922+193T>C	NP_001193861.1:n.922+193T>C
NM_001206936.2:c.912+193T>C	NP_001193865.1:n.912+193T>C
NM_001206940.2:c.964+193T>C	NP_001193869.1:n.964+193T>C
NM_001206954.2:c.823-422T>C	NP_001193883.1:n.823-422T>C
NM_001206966.2:c.964+193T>C	NP_001193895.1:n.964+193T>C
NM_172197.3:c.810-422T>C	NP_751947.1:n.810-422T>C
NR_038190.2:n.1178+193T>C
NM_001206929.2:c.1012+193T>C	NP_001193858.1:n.1012+193T>C
NM_001206934.2:c.1012+193T>C	NP_001193863.1:n.1012+193T>C