Canonical Allele Identifier: CA363510965

Gene: AGER

Linked Data

• gnomAD v4: 6-32181617-C-T
• MyVariant Identifiers: chr6:g.32149394C>T (hg19) ; chr6:g.32181617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181617C>T , CM000668.2:g.32181617C>T	GRCh38
NC_000006.11:g.32149394C>T , CM000668.1:g.32149394C>T	GRCh37
NC_000006.10:g.32257372C>T	NCBI36
NG_029868.1:g.7706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.980G>A MANE Select	ENSP00000364217.4:p.Gly327Glu
ENST00000375055.6:c.980G>A	ENSP00000364195.2:p.Gly327Glu
ENST00000375065.6:c.167G>A	ENSP00000364206.6:p.Gly56Glu
ENST00000375067.7:c.825G>A	ENSP00000364208.3:p.Gly275=
ENST00000375069.7:c.1028G>A	ENSP00000364210.4:p.Gly343Glu
ENST00000375070.7:c.662-140G>A	ENSP00000364211.4:n.662-140G>A
ENST00000375076.8:c.980G>A	ENSP00000364217.4:p.Gly327Glu
ENST00000438221.6:c.1028G>A	ENSP00000387887.2:p.Gly343Glu
ENST00000469940.5:n.19G>A
ENST00000473619.5:n.522G>A
ENST00000484849.5:n.1187G>A
ENST00000488669.5:n.522G>A
ENST00000620802.4:c.283-184G>A	ENSP00000484081.1:n.283-184G>A
NM_001136.4:c.980G>A	NP_001127.1:p.Gly327Glu
NM_001206929.1:c.1028G>A	NP_001193858.1:p.Gly343Glu
NM_001206932.1:c.938G>A	NP_001193861.1:p.Gly313Glu
NM_001206934.1:c.1028G>A	NP_001193863.1:p.Gly343Glu
NM_001206936.1:c.928G>A	NP_001193865.1:p.Gly310Ser
NM_001206940.1:c.980G>A	NP_001193869.1:p.Gly327Glu
NM_001206954.1:c.838G>A	NP_001193883.1:p.Gly280Ser
NM_001206966.1:c.980G>A	NP_001193895.1:p.Gly327Glu
NM_172197.2:c.825G>A	NP_751947.1:p.Gly275=
NR_038190.1:n.1263G>A
XM_017010328.2:c.979G>A	XP_016865817.1:p.Gly327Ser
XR_001743189.2:n.1044G>A
XR_001743190.2:n.996G>A
NM_001136.5:c.980G>A MANE Select	NP_001127.1:p.Gly327Glu
NM_001206932.2:c.938G>A	NP_001193861.1:p.Gly313Glu
NM_001206936.2:c.928G>A	NP_001193865.1:p.Gly310Ser
NM_001206940.2:c.980G>A	NP_001193869.1:p.Gly327Glu
NM_001206954.2:c.838G>A	NP_001193883.1:p.Gly280Ser
NM_001206966.2:c.980G>A	NP_001193895.1:p.Gly327Glu
NM_172197.3:c.825G>A	NP_751947.1:p.Gly275=
NR_038190.2:n.1194G>A
NM_001206929.2:c.1028G>A	NP_001193858.1:p.Gly343Glu
NM_001206934.2:c.1028G>A	NP_001193863.1:p.Gly343Glu