Canonical Allele Identifier: CA449826546

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149405T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181628T>G , CM000668.2:g.32181628T>G	GRCh38
NC_000006.11:g.32149405T>G , CM000668.1:g.32149405T>G	GRCh37
NC_000006.10:g.32257383T>G	NCBI36
NG_029868.1:g.7695A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.969A>C MANE Select	ENSP00000364217.4:p.Pro323=
ENST00000375055.6:c.969A>C	ENSP00000364195.2:p.Pro323=
ENST00000375065.6:c.156A>C	ENSP00000364206.6:p.Pro52=
ENST00000375067.7:c.814A>C	ENSP00000364208.3:p.Arg272=
ENST00000375069.7:c.1017A>C	ENSP00000364210.4:p.Pro339=
ENST00000375070.7:c.662-151A>C	ENSP00000364211.4:n.662-151A>C
ENST00000375076.8:c.969A>C	ENSP00000364217.4:p.Pro323=
ENST00000438221.6:c.1017A>C	ENSP00000387887.2:p.Pro339=
ENST00000469940.5:n.8A>C
ENST00000473619.5:n.511A>C
ENST00000484849.5:n.1176A>C
ENST00000488669.5:n.511A>C
ENST00000620802.4:c.283-195A>C	ENSP00000484081.1:n.283-195A>C
NM_001136.4:c.969A>C	NP_001127.1:p.Pro323=
NM_001206929.1:c.1017A>C	NP_001193858.1:p.Pro339=
NM_001206932.1:c.927A>C	NP_001193861.1:p.Pro309=
NM_001206934.1:c.1017A>C	NP_001193863.1:p.Pro339=
NM_001206936.1:c.917A>C	NP_001193865.1:p.Gln306Pro
NM_001206940.1:c.969A>C	NP_001193869.1:p.Pro323=
NM_001206954.1:c.827A>C	NP_001193883.1:p.Gln276Pro
NM_001206966.1:c.969A>C	NP_001193895.1:p.Pro323=
NM_172197.2:c.814A>C	NP_751947.1:p.Arg272=
NR_038190.1:n.1252A>C
XM_017010328.2:c.968A>C	XP_016865817.1:p.Gln323Pro
XR_001743189.2:n.1033A>C
XR_001743190.2:n.985A>C
NM_001136.5:c.969A>C MANE Select	NP_001127.1:p.Pro323=
NM_001206932.2:c.927A>C	NP_001193861.1:p.Pro309=
NM_001206936.2:c.917A>C	NP_001193865.1:p.Gln306Pro
NM_001206940.2:c.969A>C	NP_001193869.1:p.Pro323=
NM_001206954.2:c.827A>C	NP_001193883.1:p.Gln276Pro
NM_001206966.2:c.969A>C	NP_001193895.1:p.Pro323=
NM_172197.3:c.814A>C	NP_751947.1:p.Arg272=
NR_038190.2:n.1183A>C
NM_001206929.2:c.1017A>C	NP_001193858.1:p.Pro339=
NM_001206934.2:c.1017A>C	NP_001193863.1:p.Pro339=