Canonical Allele Identifier: CA363512928

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150030T>A (hg19) ; chr6:g.32182253T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182253T>A , CM000668.2:g.32182253T>A	GRCh38
NC_000006.11:g.32150030T>A , CM000668.1:g.32150030T>A	GRCh37
NC_000006.10:g.32258008T>A	NCBI36
NG_029868.1:g.7070A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.958A>T MANE Select	ENSP00000364217.4:p.Ile320Phe
ENST00000375055.6:c.958A>T	ENSP00000364195.2:p.Ile320Phe
ENST00000375065.6:c.145A>T	ENSP00000364206.6:p.Ile49Phe
ENST00000375067.7:c.809+286A>T	ENSP00000364208.3:n.809+286A>T
ENST00000375069.7:c.1006A>T	ENSP00000364210.4:p.Ile336Phe
ENST00000375070.7:c.655A>T	ENSP00000364211.4:p.Ile219Phe
ENST00000375076.8:c.958A>T	ENSP00000364217.4:p.Ile320Phe
ENST00000438221.6:c.1006A>T	ENSP00000387887.2:p.Ile336Phe
ENST00000473619.5:n.500A>T
ENST00000484849.5:n.1165A>T
ENST00000488669.5:n.500A>T
ENST00000620802.4:c.283-820A>T	ENSP00000484081.1:n.283-820A>T
NM_001136.4:c.958A>T	NP_001127.1:p.Ile320Phe
NM_001206929.1:c.1006A>T	NP_001193858.1:p.Ile336Phe
NM_001206932.1:c.916A>T	NP_001193861.1:p.Ile306Phe
NM_001206934.1:c.1006A>T	NP_001193863.1:p.Ile336Phe
NM_001206936.1:c.906A>T	NP_001193865.1:p.Ala302=
NM_001206940.1:c.958A>T	NP_001193869.1:p.Ile320Phe
NM_001206954.1:c.822+315A>T	NP_001193883.1:n.822+315A>T
NM_001206966.1:c.958A>T	NP_001193895.1:p.Ile320Phe
NM_172197.2:c.809+286A>T	NP_751947.1:n.809+286A>T
NR_038190.1:n.1241A>T
XM_017010328.2:c.963+315A>T	XP_016865817.1:n.963+315A>T
XR_001743189.2:n.1028+315A>T
XR_001743190.2:n.980+315A>T
NM_001136.5:c.958A>T MANE Select	NP_001127.1:p.Ile320Phe
NM_001206932.2:c.916A>T	NP_001193861.1:p.Ile306Phe
NM_001206936.2:c.906A>T	NP_001193865.1:p.Ala302=
NM_001206940.2:c.958A>T	NP_001193869.1:p.Ile320Phe
NM_001206954.2:c.822+315A>T	NP_001193883.1:n.822+315A>T
NM_001206966.2:c.958A>T	NP_001193895.1:p.Ile320Phe
NM_172197.3:c.809+286A>T	NP_751947.1:n.809+286A>T
NR_038190.2:n.1172A>T
NM_001206929.2:c.1006A>T	NP_001193858.1:p.Ile336Phe
NM_001206934.2:c.1006A>T	NP_001193863.1:p.Ile336Phe