Canonical Allele Identifier: CA363509921

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149163G>A (hg19) ; chr6:g.32181386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181386G>A , CM000668.2:g.32181386G>A	GRCh38
NC_000006.11:g.32149163G>A , CM000668.1:g.32149163G>A	GRCh37
NC_000006.10:g.32257141G>A	NCBI36
NG_029868.1:g.7937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1083C>T MANE Select	ENSP00000364217.4:p.Ile361=
ENST00000375055.6:c.*29+138C>T	ENSP00000364195.2:n.*29+138C>T
ENST00000375065.6:c.270C>T	ENSP00000364206.6:p.Ile90=
ENST00000375067.7:c.928C>T	ENSP00000364208.3:p.Leu310Phe
ENST00000375069.7:c.1131C>T	ENSP00000364210.4:p.Ile377=
ENST00000375070.7:c.753C>T	ENSP00000364211.4:p.Ile251=
ENST00000375076.8:c.1083C>T	ENSP00000364217.4:p.Ile361=
ENST00000438221.6:c.*29+138C>T	ENSP00000387887.2:n.*29+138C>T
ENST00000469940.5:n.250C>T
ENST00000473619.5:n.625C>T
ENST00000484849.5:n.1290C>T
ENST00000488669.5:n.615+138C>T
ENST00000620802.4:c.330C>T	ENSP00000484081.1:p.Ile110=
NM_001136.4:c.1083C>T	NP_001127.1:p.Ile361=
NM_001206929.1:c.1131C>T	NP_001193858.1:p.Ile377=
NM_001206932.1:c.1041C>T	NP_001193861.1:p.Ile347=
NM_001206934.1:c.*29+138C>T	NP_001193863.1:n.*29+138C>T
NM_001206936.1:c.1021+138C>T	NP_001193865.1:n.1021+138C>T
NM_001206940.1:c.*29+138C>T	NP_001193869.1:n.*29+138C>T
NM_001206954.1:c.931+138C>T	NP_001193883.1:n.931+138C>T
NM_001206966.1:c.*29+138C>T	NP_001193895.1:n.*29+138C>T
NM_172197.2:c.928C>T	NP_751947.1:p.Leu310Phe
NR_038190.1:n.1366C>T
XM_017010328.2:c.1072+138C>T	XP_016865817.1:n.1072+138C>T
XR_001743189.2:n.1147C>T
XR_001743190.2:n.1099C>T
NM_001136.5:c.1083C>T MANE Select	NP_001127.1:p.Ile361=
NM_001206932.2:c.1041C>T	NP_001193861.1:p.Ile347=
NM_001206936.2:c.1021+138C>T	NP_001193865.1:n.1021+138C>T
NM_001206940.2:c.*29+138C>T	NP_001193869.1:n.*29+138C>T
NM_001206954.2:c.931+138C>T	NP_001193883.1:n.931+138C>T
NM_001206966.2:c.*29+138C>T	NP_001193895.1:n.*29+138C>T
NM_172197.3:c.928C>T	NP_751947.1:p.Leu310Phe
NR_038190.2:n.1297C>T
NM_001206929.2:c.1131C>T	NP_001193858.1:p.Ile377=
NM_001206934.2:c.*29+138C>T	NP_001193863.1:n.*29+138C>T