Canonical Allele Identifier: CA449826569
Gene: AGER HGNC NCBI

Linked Data

gnomAD v4: 6-32182269-A-T
MyVariant Identifiers: chr6:g.32150046A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32182269A>T , CM000668.2:g.32182269A>T GRCh38
NC_000006.11:g.32150046A>T , CM000668.1:g.32150046A>T GRCh37
NC_000006.10:g.32258024A>T NCBI36
NG_029868.1:g.7054T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.942T>A MANE Select ENSP00000364217.4:p.Arg314=
ENST00000375055.6:c.942T>A ENSP00000364195.2:p.Arg314=
ENST00000375065.6:c.129T>A ENSP00000364206.6:p.Arg43=
ENST00000375067.7:c.809+270T>A ENSP00000364208.3:n.809+270T>A
ENST00000375069.7:c.990T>A ENSP00000364210.4:p.Arg330=
ENST00000375070.7:c.639T>A ENSP00000364211.4:p.Arg213=
ENST00000375076.8:c.942T>A ENSP00000364217.4:p.Arg314=
ENST00000438221.6:c.990T>A ENSP00000387887.2:p.Arg330=
ENST00000473619.5:n.484T>A
ENST00000484849.5:n.1149T>A
ENST00000488669.5:n.484T>A
ENST00000620802.4:c.283-836T>A ENSP00000484081.1:n.283-836T>A
NM_001136.4:c.942T>A NP_001127.1:p.Arg314=
NM_001206929.1:c.990T>A NP_001193858.1:p.Arg330=
NM_001206932.1:c.900T>A NP_001193861.1:p.Arg300=
NM_001206934.1:c.990T>A NP_001193863.1:p.Arg330=
NM_001206936.1:c.890T>A NP_001193865.1:p.Val297Glu
NM_001206940.1:c.942T>A NP_001193869.1:p.Arg314=
NM_001206954.1:c.822+299T>A NP_001193883.1:n.822+299T>A
NM_001206966.1:c.942T>A NP_001193895.1:p.Arg314=
NM_172197.2:c.809+270T>A NP_751947.1:n.809+270T>A
NR_038190.1:n.1225T>A
XM_017010328.2:c.963+299T>A XP_016865817.1:n.963+299T>A
XR_001743189.2:n.1028+299T>A
XR_001743190.2:n.980+299T>A
NM_001136.5:c.942T>A MANE Select NP_001127.1:p.Arg314=
NM_001206932.2:c.900T>A NP_001193861.1:p.Arg300=
NM_001206936.2:c.890T>A NP_001193865.1:p.Val297Glu
NM_001206940.2:c.942T>A NP_001193869.1:p.Arg314=
NM_001206954.2:c.822+299T>A NP_001193883.1:n.822+299T>A
NM_001206966.2:c.942T>A NP_001193895.1:p.Arg314=
NM_172197.3:c.809+270T>A NP_751947.1:n.809+270T>A
NR_038190.2:n.1156T>A
NM_001206929.2:c.990T>A NP_001193858.1:p.Arg330=
NM_001206934.2:c.990T>A NP_001193863.1:p.Arg330=