Canonical Allele Identifier: CA363513042

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150048G>T (hg19) ; chr6:g.32182271G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182271G>T , CM000668.2:g.32182271G>T	GRCh38
NC_000006.11:g.32150048G>T , CM000668.1:g.32150048G>T	GRCh37
NC_000006.10:g.32258026G>T	NCBI36
NG_029868.1:g.7052C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.940C>A MANE Select	ENSP00000364217.4:p.Arg314Ser
ENST00000375055.6:c.940C>A	ENSP00000364195.2:p.Arg314Ser
ENST00000375065.6:c.127C>A	ENSP00000364206.6:p.Arg43Ser
ENST00000375067.7:c.809+268C>A	ENSP00000364208.3:n.809+268C>A
ENST00000375069.7:c.988C>A	ENSP00000364210.4:p.Arg330Ser
ENST00000375070.7:c.637C>A	ENSP00000364211.4:p.Arg213Ser
ENST00000375076.8:c.940C>A	ENSP00000364217.4:p.Arg314Ser
ENST00000438221.6:c.988C>A	ENSP00000387887.2:p.Arg330Ser
ENST00000473619.5:n.482C>A
ENST00000484849.5:n.1147C>A
ENST00000488669.5:n.482C>A
ENST00000620802.4:c.283-838C>A	ENSP00000484081.1:n.283-838C>A
NM_001136.4:c.940C>A	NP_001127.1:p.Arg314Ser
NM_001206929.1:c.988C>A	NP_001193858.1:p.Arg330Ser
NM_001206932.1:c.898C>A	NP_001193861.1:p.Arg300Ser
NM_001206934.1:c.988C>A	NP_001193863.1:p.Arg330Ser
NM_001206936.1:c.888C>A	NP_001193865.1:p.Ala296=
NM_001206940.1:c.940C>A	NP_001193869.1:p.Arg314Ser
NM_001206954.1:c.822+297C>A	NP_001193883.1:n.822+297C>A
NM_001206966.1:c.940C>A	NP_001193895.1:p.Arg314Ser
NM_172197.2:c.809+268C>A	NP_751947.1:n.809+268C>A
NR_038190.1:n.1223C>A
XM_017010328.2:c.963+297C>A	XP_016865817.1:n.963+297C>A
XR_001743189.2:n.1028+297C>A
XR_001743190.2:n.980+297C>A
NM_001136.5:c.940C>A MANE Select	NP_001127.1:p.Arg314Ser
NM_001206932.2:c.898C>A	NP_001193861.1:p.Arg300Ser
NM_001206936.2:c.888C>A	NP_001193865.1:p.Ala296=
NM_001206940.2:c.940C>A	NP_001193869.1:p.Arg314Ser
NM_001206954.2:c.822+297C>A	NP_001193883.1:n.822+297C>A
NM_001206966.2:c.940C>A	NP_001193895.1:p.Arg314Ser
NM_172197.3:c.809+268C>A	NP_751947.1:n.809+268C>A
NR_038190.2:n.1154C>A
NM_001206929.2:c.988C>A	NP_001193858.1:p.Arg330Ser
NM_001206934.2:c.988C>A	NP_001193863.1:p.Arg330Ser