Canonical Allele Identifier: CA363509889

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149157C>G (hg19) ; chr6:g.32181380C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181380C>G , CM000668.2:g.32181380C>G	GRCh38
NC_000006.11:g.32149157C>G , CM000668.1:g.32149157C>G	GRCh37
NC_000006.10:g.32257135C>G	NCBI36
NG_029868.1:g.7943G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1089G>C MANE Select	ENSP00000364217.4:p.Trp363Cys
ENST00000375055.6:c.*30-141G>C	ENSP00000364195.2:n.*30-141G>C
ENST00000375065.6:c.276G>C	ENSP00000364206.6:p.Trp92Cys
ENST00000375067.7:c.934G>C	ENSP00000364208.3:p.Ala312Pro
ENST00000375069.7:c.1137G>C	ENSP00000364210.4:p.Trp379Cys
ENST00000375070.7:c.759G>C	ENSP00000364211.4:p.Trp253Cys
ENST00000375076.8:c.1089G>C	ENSP00000364217.4:p.Trp363Cys
ENST00000438221.6:c.*30-141G>C	ENSP00000387887.2:n.*30-141G>C
ENST00000469940.5:n.256G>C
ENST00000473619.5:n.631G>C
ENST00000484849.5:n.1296G>C
ENST00000488669.5:n.616-141G>C
ENST00000620802.4:c.336G>C	ENSP00000484081.1:p.Trp112Cys
NM_001136.4:c.1089G>C	NP_001127.1:p.Trp363Cys
NM_001206929.1:c.1137G>C	NP_001193858.1:p.Trp379Cys
NM_001206932.1:c.1047G>C	NP_001193861.1:p.Trp349Cys
NM_001206934.1:c.*30-141G>C	NP_001193863.1:n.*30-141G>C
NM_001206936.1:c.1022-141G>C	NP_001193865.1:n.1022-141G>C
NM_001206940.1:c.*30-141G>C	NP_001193869.1:n.*30-141G>C
NM_001206954.1:c.932-141G>C	NP_001193883.1:n.932-141G>C
NM_001206966.1:c.*29+144G>C	NP_001193895.1:n.*29+144G>C
NM_172197.2:c.934G>C	NP_751947.1:p.Ala312Pro
NR_038190.1:n.1372G>C
XM_017010328.2:c.1073-141G>C	XP_016865817.1:n.1073-141G>C
XR_001743189.2:n.1153G>C
XR_001743190.2:n.1105G>C
NM_001136.5:c.1089G>C MANE Select	NP_001127.1:p.Trp363Cys
NM_001206932.2:c.1047G>C	NP_001193861.1:p.Trp349Cys
NM_001206936.2:c.1022-141G>C	NP_001193865.1:n.1022-141G>C
NM_001206940.2:c.*30-141G>C	NP_001193869.1:n.*30-141G>C
NM_001206954.2:c.932-141G>C	NP_001193883.1:n.932-141G>C
NM_001206966.2:c.*29+144G>C	NP_001193895.1:n.*29+144G>C
NM_172197.3:c.934G>C	NP_751947.1:p.Ala312Pro
NR_038190.2:n.1303G>C
NM_001206929.2:c.1137G>C	NP_001193858.1:p.Trp379Cys
NM_001206934.2:c.*30-141G>C	NP_001193863.1:n.*30-141G>C