Canonical Allele Identifier: CA363510975

Gene: AGER

Linked Data

• dbSNP Id: rs1271261448
• gnomAD v3: 6-32181618-C-T
• gnomAD v4: 6-32181618-C-T
• MyVariant Identifiers: chr6:g.32149395C>T (hg19) ; chr6:g.32181618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181618C>T , CM000668.2:g.32181618C>T	GRCh38
NC_000006.11:g.32149395C>T , CM000668.1:g.32149395C>T	GRCh37
NC_000006.10:g.32257373C>T	NCBI36
NG_029868.1:g.7705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.979G>A MANE Select	ENSP00000364217.4:p.Gly327Arg
ENST00000375055.6:c.979G>A	ENSP00000364195.2:p.Gly327Arg
ENST00000375065.6:c.166G>A	ENSP00000364206.6:p.Gly56Arg
ENST00000375067.7:c.824G>A	ENSP00000364208.3:p.Gly275Glu
ENST00000375069.7:c.1027G>A	ENSP00000364210.4:p.Gly343Arg
ENST00000375070.7:c.662-141G>A	ENSP00000364211.4:n.662-141G>A
ENST00000375076.8:c.979G>A	ENSP00000364217.4:p.Gly327Arg
ENST00000438221.6:c.1027G>A	ENSP00000387887.2:p.Gly343Arg
ENST00000469940.5:n.18G>A
ENST00000473619.5:n.521G>A
ENST00000484849.5:n.1186G>A
ENST00000488669.5:n.521G>A
ENST00000620802.4:c.283-185G>A	ENSP00000484081.1:n.283-185G>A
NM_001136.4:c.979G>A	NP_001127.1:p.Gly327Arg
NM_001206929.1:c.1027G>A	NP_001193858.1:p.Gly343Arg
NM_001206932.1:c.937G>A	NP_001193861.1:p.Gly313Arg
NM_001206934.1:c.1027G>A	NP_001193863.1:p.Gly343Arg
NM_001206936.1:c.927G>A	NP_001193865.1:p.Arg309=
NM_001206940.1:c.979G>A	NP_001193869.1:p.Gly327Arg
NM_001206954.1:c.837G>A	NP_001193883.1:p.Arg279=
NM_001206966.1:c.979G>A	NP_001193895.1:p.Gly327Arg
NM_172197.2:c.824G>A	NP_751947.1:p.Gly275Glu
NR_038190.1:n.1262G>A
XM_017010328.2:c.978G>A	XP_016865817.1:p.Arg326=
XR_001743189.2:n.1043G>A
XR_001743190.2:n.995G>A
NM_001136.5:c.979G>A MANE Select	NP_001127.1:p.Gly327Arg
NM_001206932.2:c.937G>A	NP_001193861.1:p.Gly313Arg
NM_001206936.2:c.927G>A	NP_001193865.1:p.Arg309=
NM_001206940.2:c.979G>A	NP_001193869.1:p.Gly327Arg
NM_001206954.2:c.837G>A	NP_001193883.1:p.Arg279=
NM_001206966.2:c.979G>A	NP_001193895.1:p.Gly327Arg
NM_172197.3:c.824G>A	NP_751947.1:p.Gly275Glu
NR_038190.2:n.1193G>A
NM_001206929.2:c.1027G>A	NP_001193858.1:p.Gly343Arg
NM_001206934.2:c.1027G>A	NP_001193863.1:p.Gly343Arg