Canonical Allele Identifier: CA363510652

Gene: AGER

Linked Data

• gnomAD v4: 6-32181582-C-G
• MyVariant Identifiers: chr6:g.32149359C>G (hg19) ; chr6:g.32181582C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181582C>G , CM000668.2:g.32181582C>G	GRCh38
NC_000006.11:g.32149359C>G , CM000668.1:g.32149359C>G	GRCh37
NC_000006.10:g.32257337C>G	NCBI36
NG_029868.1:g.7741G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.991+24G>C MANE Select	ENSP00000364217.4:n.991+24G>C
ENST00000375055.6:c.1015G>C	ENSP00000364195.2:p.Glu339Gln
ENST00000375065.6:c.178+24G>C	ENSP00000364206.6:n.178+24G>C
ENST00000375067.7:c.836+24G>C	ENSP00000364208.3:n.836+24G>C
ENST00000375069.7:c.1039+24G>C	ENSP00000364210.4:n.1039+24G>C
ENST00000375070.7:c.662-105G>C	ENSP00000364211.4:n.662-105G>C
ENST00000375076.8:c.991+24G>C	ENSP00000364217.4:n.991+24G>C
ENST00000438221.6:c.1063G>C	ENSP00000387887.2:p.Glu355Gln
ENST00000469940.5:n.54G>C
ENST00000473619.5:n.533+24G>C
ENST00000484849.5:n.1198+24G>C
ENST00000488669.5:n.557G>C
ENST00000620802.4:c.283-149G>C	ENSP00000484081.1:n.283-149G>C
NM_001136.4:c.991+24G>C	NP_001127.1:n.991+24G>C
NM_001206929.1:c.1039+24G>C	NP_001193858.1:n.1039+24G>C
NM_001206932.1:c.949+24G>C	NP_001193861.1:n.949+24G>C
NM_001206934.1:c.1063G>C	NP_001193863.1:p.Glu355Gln
NM_001206936.1:c.963G>C	NP_001193865.1:p.Gly321=
NM_001206940.1:c.1015G>C	NP_001193869.1:p.Glu339Gln
NM_001206954.1:c.873G>C	NP_001193883.1:p.Gly291=
NM_001206966.1:c.1015G>C	NP_001193895.1:p.Glu339Gln
NM_172197.2:c.836+24G>C	NP_751947.1:n.836+24G>C
NR_038190.1:n.1274+24G>C
XM_017010328.2:c.1014G>C	XP_016865817.1:p.Gly338=
XR_001743189.2:n.1055+24G>C
XR_001743190.2:n.1007+24G>C
NM_001136.5:c.991+24G>C MANE Select	NP_001127.1:n.991+24G>C
NM_001206932.2:c.949+24G>C	NP_001193861.1:n.949+24G>C
NM_001206936.2:c.963G>C	NP_001193865.1:p.Gly321=
NM_001206940.2:c.1015G>C	NP_001193869.1:p.Glu339Gln
NM_001206954.2:c.873G>C	NP_001193883.1:p.Gly291=
NM_001206966.2:c.1015G>C	NP_001193895.1:p.Glu339Gln
NM_172197.3:c.836+24G>C	NP_751947.1:n.836+24G>C
NR_038190.2:n.1205+24G>C
NM_001206929.2:c.1039+24G>C	NP_001193858.1:n.1039+24G>C
NM_001206934.2:c.1063G>C	NP_001193863.1:p.Glu355Gln