Canonical Allele Identifier: CA363510207

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149213G>T (hg19) ; chr6:g.32181436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181436G>T , CM000668.2:g.32181436G>T	GRCh38
NC_000006.11:g.32149213G>T , CM000668.1:g.32149213G>T	GRCh37
NC_000006.10:g.32257191G>T	NCBI36
NG_029868.1:g.7887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1033C>A MANE Select	ENSP00000364217.4:p.Leu345Met
ENST00000375055.6:c.*29+88C>A	ENSP00000364195.2:n.*29+88C>A
ENST00000375065.6:c.220C>A	ENSP00000364206.6:p.Leu74Met
ENST00000375067.7:c.878C>A	ENSP00000364208.3:p.Pro293His
ENST00000375069.7:c.1081C>A	ENSP00000364210.4:p.Leu361Met
ENST00000375070.7:c.703C>A	ENSP00000364211.4:p.Leu235Met
ENST00000375076.8:c.1033C>A	ENSP00000364217.4:p.Leu345Met
ENST00000438221.6:c.*29+88C>A	ENSP00000387887.2:n.*29+88C>A
ENST00000469940.5:n.200C>A
ENST00000473619.5:n.575C>A
ENST00000484849.5:n.1240C>A
ENST00000488669.5:n.615+88C>A
ENST00000620802.4:c.283-3C>A	ENSP00000484081.1:n.283-3C>A
NM_001136.4:c.1033C>A	NP_001127.1:p.Leu345Met
NM_001206929.1:c.1081C>A	NP_001193858.1:p.Leu361Met
NM_001206932.1:c.991C>A	NP_001193861.1:p.Leu331Met
NM_001206934.1:c.*29+88C>A	NP_001193863.1:n.*29+88C>A
NM_001206936.1:c.1021+88C>A	NP_001193865.1:n.1021+88C>A
NM_001206940.1:c.*29+88C>A	NP_001193869.1:n.*29+88C>A
NM_001206954.1:c.931+88C>A	NP_001193883.1:n.931+88C>A
NM_001206966.1:c.*29+88C>A	NP_001193895.1:n.*29+88C>A
NM_172197.2:c.878C>A	NP_751947.1:p.Pro293His
NR_038190.1:n.1316C>A
XM_017010328.2:c.1072+88C>A	XP_016865817.1:n.1072+88C>A
XR_001743189.2:n.1097C>A
XR_001743190.2:n.1049C>A
NM_001136.5:c.1033C>A MANE Select	NP_001127.1:p.Leu345Met
NM_001206932.2:c.991C>A	NP_001193861.1:p.Leu331Met
NM_001206936.2:c.1021+88C>A	NP_001193865.1:n.1021+88C>A
NM_001206940.2:c.*29+88C>A	NP_001193869.1:n.*29+88C>A
NM_001206954.2:c.931+88C>A	NP_001193883.1:n.931+88C>A
NM_001206966.2:c.*29+88C>A	NP_001193895.1:n.*29+88C>A
NM_172197.3:c.878C>A	NP_751947.1:p.Pro293His
NR_038190.2:n.1247C>A
NM_001206929.2:c.1081C>A	NP_001193858.1:p.Leu361Met
NM_001206934.2:c.*29+88C>A	NP_001193863.1:n.*29+88C>A