Canonical Allele Identifier: CA363512983

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150038C>A (hg19) ; chr6:g.32182261C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182261C>A , CM000668.2:g.32182261C>A	GRCh38
NC_000006.11:g.32150038C>A , CM000668.1:g.32150038C>A	GRCh37
NC_000006.10:g.32258016C>A	NCBI36
NG_029868.1:g.7062G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.950G>T MANE Select	ENSP00000364217.4:p.Ser317Ile
ENST00000375055.6:c.950G>T	ENSP00000364195.2:p.Ser317Ile
ENST00000375065.6:c.137G>T	ENSP00000364206.6:p.Ser46Ile
ENST00000375067.7:c.809+278G>T	ENSP00000364208.3:n.809+278G>T
ENST00000375069.7:c.998G>T	ENSP00000364210.4:p.Ser333Ile
ENST00000375070.7:c.647G>T	ENSP00000364211.4:p.Ser216Ile
ENST00000375076.8:c.950G>T	ENSP00000364217.4:p.Ser317Ile
ENST00000438221.6:c.998G>T	ENSP00000387887.2:p.Ser333Ile
ENST00000473619.5:n.492G>T
ENST00000484849.5:n.1157G>T
ENST00000488669.5:n.492G>T
ENST00000620802.4:c.283-828G>T	ENSP00000484081.1:n.283-828G>T
NM_001136.4:c.950G>T	NP_001127.1:p.Ser317Ile
NM_001206929.1:c.998G>T	NP_001193858.1:p.Ser333Ile
NM_001206932.1:c.908G>T	NP_001193861.1:p.Ser303Ile
NM_001206934.1:c.998G>T	NP_001193863.1:p.Ser333Ile
NM_001206936.1:c.898G>T	NP_001193865.1:p.Ala300Ser
NM_001206940.1:c.950G>T	NP_001193869.1:p.Ser317Ile
NM_001206954.1:c.822+307G>T	NP_001193883.1:n.822+307G>T
NM_001206966.1:c.950G>T	NP_001193895.1:p.Ser317Ile
NM_172197.2:c.809+278G>T	NP_751947.1:n.809+278G>T
NR_038190.1:n.1233G>T
XM_017010328.2:c.963+307G>T	XP_016865817.1:n.963+307G>T
XR_001743189.2:n.1028+307G>T
XR_001743190.2:n.980+307G>T
NM_001136.5:c.950G>T MANE Select	NP_001127.1:p.Ser317Ile
NM_001206932.2:c.908G>T	NP_001193861.1:p.Ser303Ile
NM_001206936.2:c.898G>T	NP_001193865.1:p.Ala300Ser
NM_001206940.2:c.950G>T	NP_001193869.1:p.Ser317Ile
NM_001206954.2:c.822+307G>T	NP_001193883.1:n.822+307G>T
NM_001206966.2:c.950G>T	NP_001193895.1:p.Ser317Ile
NM_172197.3:c.809+278G>T	NP_751947.1:n.809+278G>T
NR_038190.2:n.1164G>T
NM_001206929.2:c.998G>T	NP_001193858.1:p.Ser333Ile
NM_001206934.2:c.998G>T	NP_001193863.1:p.Ser333Ile