Canonical Allele Identifier: CA3737922

Gene: AGER

Linked Data

• dbSNP Id: rs559420109
• ExAC: 6:32149149 C / A
• gnomAD v2: 6-32149149-C-A
• gnomAD v4: 6-32181372-C-A
• MyVariant Identifiers: chr6:g.32149149C>A (hg19) ; chr6:g.32181372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181372C>A , CM000668.2:g.32181372C>A	GRCh38
NC_000006.11:g.32149149C>A , CM000668.1:g.32149149C>A	GRCh37
NC_000006.10:g.32257127C>A	NCBI36
NG_029868.1:g.7951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1097G>T MANE Select	ENSP00000364217.4:p.Arg366Leu
ENST00000375055.6:c.*30-133G>T	ENSP00000364195.2:n.*30-133G>T
ENST00000375065.6:c.284G>T	ENSP00000364206.6:p.Arg95Leu
ENST00000375067.7:c.942G>T	ENSP00000364208.3:p.Ala314=
ENST00000375069.7:c.1145G>T	ENSP00000364210.4:p.Arg382Leu
ENST00000375070.7:c.767G>T	ENSP00000364211.4:p.Arg256Leu
ENST00000375076.8:c.1097G>T	ENSP00000364217.4:p.Arg366Leu
ENST00000438221.6:c.*30-133G>T	ENSP00000387887.2:n.*30-133G>T
ENST00000469940.5:n.264G>T
ENST00000473619.5:n.639G>T
ENST00000484849.5:n.1304G>T
ENST00000488669.5:n.616-133G>T
ENST00000620802.4:c.344G>T	ENSP00000484081.1:p.Arg115Leu
NM_001136.4:c.1097G>T	NP_001127.1:p.Arg366Leu
NM_001206929.1:c.1145G>T	NP_001193858.1:p.Arg382Leu
NM_001206932.1:c.1055G>T	NP_001193861.1:p.Arg352Leu
NM_001206934.1:c.*30-133G>T	NP_001193863.1:n.*30-133G>T
NM_001206936.1:c.1022-133G>T	NP_001193865.1:n.1022-133G>T
NM_001206940.1:c.*30-133G>T	NP_001193869.1:n.*30-133G>T
NM_001206954.1:c.932-133G>T	NP_001193883.1:n.932-133G>T
NM_001206966.1:c.*29+152G>T	NP_001193895.1:n.*29+152G>T
NM_172197.2:c.942G>T	NP_751947.1:p.Ala314=
NR_038190.1:n.1380G>T
XM_017010328.2:c.1073-133G>T	XP_016865817.1:n.1073-133G>T
XR_001743189.2:n.1161G>T
XR_001743190.2:n.1113G>T
NM_001136.5:c.1097G>T MANE Select	NP_001127.1:p.Arg366Leu
NM_001206932.2:c.1055G>T	NP_001193861.1:p.Arg352Leu
NM_001206936.2:c.1022-133G>T	NP_001193865.1:n.1022-133G>T
NM_001206940.2:c.*30-133G>T	NP_001193869.1:n.*30-133G>T
NM_001206954.2:c.932-133G>T	NP_001193883.1:n.932-133G>T
NM_001206966.2:c.*29+152G>T	NP_001193895.1:n.*29+152G>T
NM_172197.3:c.942G>T	NP_751947.1:p.Ala314=
NR_038190.2:n.1311G>T
NM_001206929.2:c.1145G>T	NP_001193858.1:p.Arg382Leu
NM_001206934.2:c.*30-133G>T	NP_001193863.1:n.*30-133G>T