Canonical Allele Identifier: CA363512969

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150036T>A (hg19) ; chr6:g.32182259T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182259T>A , CM000668.2:g.32182259T>A	GRCh38
NC_000006.11:g.32150036T>A , CM000668.1:g.32150036T>A	GRCh37
NC_000006.10:g.32258014T>A	NCBI36
NG_029868.1:g.7064A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.952A>T MANE Select	ENSP00000364217.4:p.Ile318Phe
ENST00000375055.6:c.952A>T	ENSP00000364195.2:p.Ile318Phe
ENST00000375065.6:c.139A>T	ENSP00000364206.6:p.Ile47Phe
ENST00000375067.7:c.809+280A>T	ENSP00000364208.3:n.809+280A>T
ENST00000375069.7:c.1000A>T	ENSP00000364210.4:p.Ile334Phe
ENST00000375070.7:c.649A>T	ENSP00000364211.4:p.Ile217Phe
ENST00000375076.8:c.952A>T	ENSP00000364217.4:p.Ile318Phe
ENST00000438221.6:c.1000A>T	ENSP00000387887.2:p.Ile334Phe
ENST00000473619.5:n.494A>T
ENST00000484849.5:n.1159A>T
ENST00000488669.5:n.494A>T
ENST00000620802.4:c.283-826A>T	ENSP00000484081.1:n.283-826A>T
NM_001136.4:c.952A>T	NP_001127.1:p.Ile318Phe
NM_001206929.1:c.1000A>T	NP_001193858.1:p.Ile334Phe
NM_001206932.1:c.910A>T	NP_001193861.1:p.Ile304Phe
NM_001206934.1:c.1000A>T	NP_001193863.1:p.Ile334Phe
NM_001206936.1:c.900A>T	NP_001193865.1:p.Ala300=
NM_001206940.1:c.952A>T	NP_001193869.1:p.Ile318Phe
NM_001206954.1:c.822+309A>T	NP_001193883.1:n.822+309A>T
NM_001206966.1:c.952A>T	NP_001193895.1:p.Ile318Phe
NM_172197.2:c.809+280A>T	NP_751947.1:n.809+280A>T
NR_038190.1:n.1235A>T
XM_017010328.2:c.963+309A>T	XP_016865817.1:n.963+309A>T
XR_001743189.2:n.1028+309A>T
XR_001743190.2:n.980+309A>T
NM_001136.5:c.952A>T MANE Select	NP_001127.1:p.Ile318Phe
NM_001206932.2:c.910A>T	NP_001193861.1:p.Ile304Phe
NM_001206936.2:c.900A>T	NP_001193865.1:p.Ala300=
NM_001206940.2:c.952A>T	NP_001193869.1:p.Ile318Phe
NM_001206954.2:c.822+309A>T	NP_001193883.1:n.822+309A>T
NM_001206966.2:c.952A>T	NP_001193895.1:p.Ile318Phe
NM_172197.3:c.809+280A>T	NP_751947.1:n.809+280A>T
NR_038190.2:n.1166A>T
NM_001206929.2:c.1000A>T	NP_001193858.1:p.Ile334Phe
NM_001206934.2:c.1000A>T	NP_001193863.1:p.Ile334Phe