Canonical Allele Identifier: CA363513013

Gene: AGER

Linked Data

• dbSNP Id: rs1453748410
• gnomAD v2: 6-32150042-C-T
• gnomAD v4: 6-32182265-C-T
• MyVariant Identifiers: chr6:g.32150042C>T (hg19) ; chr6:g.32182265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182265C>T , CM000668.2:g.32182265C>T	GRCh38
NC_000006.11:g.32150042C>T , CM000668.1:g.32150042C>T	GRCh37
NC_000006.10:g.32258020C>T	NCBI36
NG_029868.1:g.7058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.946G>A MANE Select	ENSP00000364217.4:p.Val316Ile
ENST00000375055.6:c.946G>A	ENSP00000364195.2:p.Val316Ile
ENST00000375065.6:c.133G>A	ENSP00000364206.6:p.Val45Ile
ENST00000375067.7:c.809+274G>A	ENSP00000364208.3:n.809+274G>A
ENST00000375069.7:c.994G>A	ENSP00000364210.4:p.Val332Ile
ENST00000375070.7:c.643G>A	ENSP00000364211.4:p.Val215Ile
ENST00000375076.8:c.946G>A	ENSP00000364217.4:p.Val316Ile
ENST00000438221.6:c.994G>A	ENSP00000387887.2:p.Val332Ile
ENST00000473619.5:n.488G>A
ENST00000484849.5:n.1153G>A
ENST00000488669.5:n.488G>A
ENST00000620802.4:c.283-832G>A	ENSP00000484081.1:n.283-832G>A
NM_001136.4:c.946G>A	NP_001127.1:p.Val316Ile
NM_001206929.1:c.994G>A	NP_001193858.1:p.Val332Ile
NM_001206932.1:c.904G>A	NP_001193861.1:p.Val302Ile
NM_001206934.1:c.994G>A	NP_001193863.1:p.Val332Ile
NM_001206936.1:c.894G>A	NP_001193865.1:p.Leu298=
NM_001206940.1:c.946G>A	NP_001193869.1:p.Val316Ile
NM_001206954.1:c.822+303G>A	NP_001193883.1:n.822+303G>A
NM_001206966.1:c.946G>A	NP_001193895.1:p.Val316Ile
NM_172197.2:c.809+274G>A	NP_751947.1:n.809+274G>A
NR_038190.1:n.1229G>A
XM_017010328.2:c.963+303G>A	XP_016865817.1:n.963+303G>A
XR_001743189.2:n.1028+303G>A
XR_001743190.2:n.980+303G>A
NM_001136.5:c.946G>A MANE Select	NP_001127.1:p.Val316Ile
NM_001206932.2:c.904G>A	NP_001193861.1:p.Val302Ile
NM_001206936.2:c.894G>A	NP_001193865.1:p.Leu298=
NM_001206940.2:c.946G>A	NP_001193869.1:p.Val316Ile
NM_001206954.2:c.822+303G>A	NP_001193883.1:n.822+303G>A
NM_001206966.2:c.946G>A	NP_001193895.1:p.Val316Ile
NM_172197.3:c.809+274G>A	NP_751947.1:n.809+274G>A
NR_038190.2:n.1160G>A
NM_001206929.2:c.994G>A	NP_001193858.1:p.Val332Ile
NM_001206934.2:c.994G>A	NP_001193863.1:p.Val332Ile