Canonical Allele Identifier: CA363510833

Gene: AGER

Linked Data

• dbSNP Id: rs1786231209
• gnomAD v3: 6-32181604-A-T
• gnomAD v4: 6-32181604-A-T
• MyVariant Identifiers: chr6:g.32149381A>T (hg19) ; chr6:g.32181604A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181604A>T , CM000668.2:g.32181604A>T	GRCh38
NC_000006.11:g.32149381A>T , CM000668.1:g.32149381A>T	GRCh37
NC_000006.10:g.32257359A>T	NCBI36
NG_029868.1:g.7719T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.991+2T>A MANE Select	ENSP00000364217.4:n.991+2T>A
ENST00000375055.6:c.993T>A	ENSP00000364195.2:p.Gly331=
ENST00000375065.6:c.178+2T>A	ENSP00000364206.6:n.178+2T>A
ENST00000375067.7:c.836+2T>A	ENSP00000364208.3:n.836+2T>A
ENST00000375069.7:c.1039+2T>A	ENSP00000364210.4:n.1039+2T>A
ENST00000375070.7:c.662-127T>A	ENSP00000364211.4:n.662-127T>A
ENST00000375076.8:c.991+2T>A	ENSP00000364217.4:n.991+2T>A
ENST00000438221.6:c.1041T>A	ENSP00000387887.2:p.Gly347=
ENST00000469940.5:n.32T>A
ENST00000473619.5:n.533+2T>A
ENST00000484849.5:n.1198+2T>A
ENST00000488669.5:n.535T>A
ENST00000620802.4:c.283-171T>A	ENSP00000484081.1:n.283-171T>A
NM_001136.4:c.991+2T>A	NP_001127.1:n.991+2T>A
NM_001206929.1:c.1039+2T>A	NP_001193858.1:n.1039+2T>A
NM_001206932.1:c.949+2T>A	NP_001193861.1:n.949+2T>A
NM_001206934.1:c.1041T>A	NP_001193863.1:p.Gly347=
NM_001206936.1:c.941T>A	NP_001193865.1:p.Val314Glu
NM_001206940.1:c.993T>A	NP_001193869.1:p.Gly331=
NM_001206954.1:c.851T>A	NP_001193883.1:p.Val284Glu
NM_001206966.1:c.993T>A	NP_001193895.1:p.Gly331=
NM_172197.2:c.836+2T>A	NP_751947.1:n.836+2T>A
NR_038190.1:n.1274+2T>A
XM_017010328.2:c.992T>A	XP_016865817.1:p.Val331Glu
XR_001743189.2:n.1055+2T>A
XR_001743190.2:n.1007+2T>A
NM_001136.5:c.991+2T>A MANE Select	NP_001127.1:n.991+2T>A
NM_001206932.2:c.949+2T>A	NP_001193861.1:n.949+2T>A
NM_001206936.2:c.941T>A	NP_001193865.1:p.Val314Glu
NM_001206940.2:c.993T>A	NP_001193869.1:p.Gly331=
NM_001206954.2:c.851T>A	NP_001193883.1:p.Val284Glu
NM_001206966.2:c.993T>A	NP_001193895.1:p.Gly331=
NM_172197.3:c.836+2T>A	NP_751947.1:n.836+2T>A
NR_038190.2:n.1205+2T>A
NM_001206929.2:c.1039+2T>A	NP_001193858.1:n.1039+2T>A
NM_001206934.2:c.1041T>A	NP_001193863.1:p.Gly347=