Canonical Allele Identifier: CA363512912

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150027T>G (hg19) ; chr6:g.32182250T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182250T>G , CM000668.2:g.32182250T>G	GRCh38
NC_000006.11:g.32150027T>G , CM000668.1:g.32150027T>G	GRCh37
NC_000006.10:g.32258005T>G	NCBI36
NG_029868.1:g.7073A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.961A>C MANE Select	ENSP00000364217.4:p.Ile321Leu
ENST00000375055.6:c.961A>C	ENSP00000364195.2:p.Ile321Leu
ENST00000375065.6:c.148A>C	ENSP00000364206.6:p.Ile50Leu
ENST00000375067.7:c.809+289A>C	ENSP00000364208.3:n.809+289A>C
ENST00000375069.7:c.1009A>C	ENSP00000364210.4:p.Ile337Leu
ENST00000375070.7:c.658A>C	ENSP00000364211.4:p.Ile220Leu
ENST00000375076.8:c.961A>C	ENSP00000364217.4:p.Ile321Leu
ENST00000438221.6:c.1009A>C	ENSP00000387887.2:p.Ile337Leu
ENST00000473619.5:n.503A>C
ENST00000484849.5:n.1168A>C
ENST00000488669.5:n.503A>C
ENST00000620802.4:c.283-817A>C	ENSP00000484081.1:n.283-817A>C
NM_001136.4:c.961A>C	NP_001127.1:p.Ile321Leu
NM_001206929.1:c.1009A>C	NP_001193858.1:p.Ile337Leu
NM_001206932.1:c.919A>C	NP_001193861.1:p.Ile307Leu
NM_001206934.1:c.1009A>C	NP_001193863.1:p.Ile337Leu
NM_001206936.1:c.909A>C	NP_001193865.1:p.Ser303=
NM_001206940.1:c.961A>C	NP_001193869.1:p.Ile321Leu
NM_001206954.1:c.822+318A>C	NP_001193883.1:n.822+318A>C
NM_001206966.1:c.961A>C	NP_001193895.1:p.Ile321Leu
NM_172197.2:c.809+289A>C	NP_751947.1:n.809+289A>C
NR_038190.1:n.1244A>C
XM_017010328.2:c.963+318A>C	XP_016865817.1:n.963+318A>C
XR_001743189.2:n.1028+318A>C
XR_001743190.2:n.980+318A>C
NM_001136.5:c.961A>C MANE Select	NP_001127.1:p.Ile321Leu
NM_001206932.2:c.919A>C	NP_001193861.1:p.Ile307Leu
NM_001206936.2:c.909A>C	NP_001193865.1:p.Ser303=
NM_001206940.2:c.961A>C	NP_001193869.1:p.Ile321Leu
NM_001206954.2:c.822+318A>C	NP_001193883.1:n.822+318A>C
NM_001206966.2:c.961A>C	NP_001193895.1:p.Ile321Leu
NM_172197.3:c.809+289A>C	NP_751947.1:n.809+289A>C
NR_038190.2:n.1175A>C
NM_001206929.2:c.1009A>C	NP_001193858.1:p.Ile337Leu
NM_001206934.2:c.1009A>C	NP_001193863.1:p.Ile337Leu