Canonical Allele Identifier: CA363509993

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149176A>C (hg19) ; chr6:g.32181399A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181399A>C , CM000668.2:g.32181399A>C	GRCh38
NC_000006.11:g.32149176A>C , CM000668.1:g.32149176A>C	GRCh37
NC_000006.10:g.32257154A>C	NCBI36
NG_029868.1:g.7924T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.1070T>G MANE Select	ENSP00000364217.4:p.Leu357Arg
ENST00000375055.6:c.*29+125T>G	ENSP00000364195.2:n.*29+125T>G
ENST00000375065.6:c.257T>G	ENSP00000364206.6:p.Leu86Arg
ENST00000375067.7:c.915T>G	ENSP00000364208.3:p.Ala305=
ENST00000375069.7:c.1118T>G	ENSP00000364210.4:p.Leu373Arg
ENST00000375070.7:c.740T>G	ENSP00000364211.4:p.Leu247Arg
ENST00000375076.8:c.1070T>G	ENSP00000364217.4:p.Leu357Arg
ENST00000438221.6:c.*29+125T>G	ENSP00000387887.2:n.*29+125T>G
ENST00000469940.5:n.237T>G
ENST00000473619.5:n.612T>G
ENST00000484849.5:n.1277T>G
ENST00000488669.5:n.615+125T>G
ENST00000620802.4:c.317T>G	ENSP00000484081.1:p.Leu106Arg
NM_001136.4:c.1070T>G	NP_001127.1:p.Leu357Arg
NM_001206929.1:c.1118T>G	NP_001193858.1:p.Leu373Arg
NM_001206932.1:c.1028T>G	NP_001193861.1:p.Leu343Arg
NM_001206934.1:c.*29+125T>G	NP_001193863.1:n.*29+125T>G
NM_001206936.1:c.1021+125T>G	NP_001193865.1:n.1021+125T>G
NM_001206940.1:c.*29+125T>G	NP_001193869.1:n.*29+125T>G
NM_001206954.1:c.931+125T>G	NP_001193883.1:n.931+125T>G
NM_001206966.1:c.*29+125T>G	NP_001193895.1:n.*29+125T>G
NM_172197.2:c.915T>G	NP_751947.1:p.Ala305=
NR_038190.1:n.1353T>G
XM_017010328.2:c.1072+125T>G	XP_016865817.1:n.1072+125T>G
XR_001743189.2:n.1134T>G
XR_001743190.2:n.1086T>G
NM_001136.5:c.1070T>G MANE Select	NP_001127.1:p.Leu357Arg
NM_001206932.2:c.1028T>G	NP_001193861.1:p.Leu343Arg
NM_001206936.2:c.1021+125T>G	NP_001193865.1:n.1021+125T>G
NM_001206940.2:c.*29+125T>G	NP_001193869.1:n.*29+125T>G
NM_001206954.2:c.931+125T>G	NP_001193883.1:n.931+125T>G
NM_001206966.2:c.*29+125T>G	NP_001193895.1:n.*29+125T>G
NM_172197.3:c.915T>G	NP_751947.1:p.Ala305=
NR_038190.2:n.1284T>G
NM_001206929.2:c.1118T>G	NP_001193858.1:p.Leu373Arg
NM_001206934.2:c.*29+125T>G	NP_001193863.1:n.*29+125T>G