Canonical Allele Identifier: CA3737928

Gene: AGER

Linked Data

• dbSNP Id: rs747997506
• ExAC: 6:32149170 C / T
• gnomAD v2: 6-32149170-C-T
• gnomAD v4: 6-32181393-C-T
• MyVariant Identifiers: chr6:g.32149170C>T (hg19) ; chr6:g.32181393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181393C>T , CM000668.2:g.32181393C>T	GRCh38
NC_000006.11:g.32149170C>T , CM000668.1:g.32149170C>T	GRCh37
NC_000006.10:g.32257148C>T	NCBI36
NG_029868.1:g.7930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1076G>A MANE Select	ENSP00000364217.4:p.Gly359Glu
ENST00000375055.6:c.*29+131G>A	ENSP00000364195.2:n.*29+131G>A
ENST00000375065.6:c.263G>A	ENSP00000364206.6:p.Gly88Glu
ENST00000375067.7:c.921G>A	ENSP00000364208.3:p.Trp307Ter
ENST00000375069.7:c.1124G>A	ENSP00000364210.4:p.Gly375Glu
ENST00000375070.7:c.746G>A	ENSP00000364211.4:p.Gly249Glu
ENST00000375076.8:c.1076G>A	ENSP00000364217.4:p.Gly359Glu
ENST00000438221.6:c.*29+131G>A	ENSP00000387887.2:n.*29+131G>A
ENST00000469940.5:n.243G>A
ENST00000473619.5:n.618G>A
ENST00000484849.5:n.1283G>A
ENST00000488669.5:n.615+131G>A
ENST00000620802.4:c.323G>A	ENSP00000484081.1:p.Gly108Glu
NM_001136.4:c.1076G>A	NP_001127.1:p.Gly359Glu
NM_001206929.1:c.1124G>A	NP_001193858.1:p.Gly375Glu
NM_001206932.1:c.1034G>A	NP_001193861.1:p.Gly345Glu
NM_001206934.1:c.*29+131G>A	NP_001193863.1:n.*29+131G>A
NM_001206936.1:c.1021+131G>A	NP_001193865.1:n.1021+131G>A
NM_001206940.1:c.*29+131G>A	NP_001193869.1:n.*29+131G>A
NM_001206954.1:c.931+131G>A	NP_001193883.1:n.931+131G>A
NM_001206966.1:c.*29+131G>A	NP_001193895.1:n.*29+131G>A
NM_172197.2:c.921G>A	NP_751947.1:p.Trp307Ter
NR_038190.1:n.1359G>A
XM_017010328.2:c.1072+131G>A	XP_016865817.1:n.1072+131G>A
XR_001743189.2:n.1140G>A
XR_001743190.2:n.1092G>A
NM_001136.5:c.1076G>A MANE Select	NP_001127.1:p.Gly359Glu
NM_001206932.2:c.1034G>A	NP_001193861.1:p.Gly345Glu
NM_001206936.2:c.1021+131G>A	NP_001193865.1:n.1021+131G>A
NM_001206940.2:c.*29+131G>A	NP_001193869.1:n.*29+131G>A
NM_001206954.2:c.931+131G>A	NP_001193883.1:n.931+131G>A
NM_001206966.2:c.*29+131G>A	NP_001193895.1:n.*29+131G>A
NM_172197.3:c.921G>A	NP_751947.1:p.Trp307Ter
NR_038190.2:n.1290G>A
NM_001206929.2:c.1124G>A	NP_001193858.1:p.Gly375Glu
NM_001206934.2:c.*29+131G>A	NP_001193863.1:n.*29+131G>A