Canonical Allele Identifier: CA3738013

Gene: AGER

Linked Data

• ClinVar Variation Id: 785164
• ClinVar RCV Id: RCV000966990
• dbSNP Id: rs77170610
• ExAC: 6:32150047 C / T
• gnomAD v2: 6-32150047-C-T
• gnomAD v3: 6-32182270-C-T
• gnomAD v4: 6-32182270-C-T
• MyVariant Identifiers: chr6:g.32150047C>T (hg19) ; chr6:g.32182270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182270C>T , CM000668.2:g.32182270C>T	GRCh38
NC_000006.11:g.32150047C>T , CM000668.1:g.32150047C>T	GRCh37
NC_000006.10:g.32258025C>T	NCBI36
NG_029868.1:g.7053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.941G>A MANE Select	ENSP00000364217.4:p.Arg314His
ENST00000375055.6:c.941G>A	ENSP00000364195.2:p.Arg314His
ENST00000375065.6:c.128G>A	ENSP00000364206.6:p.Arg43His
ENST00000375067.7:c.809+269G>A	ENSP00000364208.3:n.809+269G>A
ENST00000375069.7:c.989G>A	ENSP00000364210.4:p.Arg330His
ENST00000375070.7:c.638G>A	ENSP00000364211.4:p.Arg213His
ENST00000375076.8:c.941G>A	ENSP00000364217.4:p.Arg314His
ENST00000438221.6:c.989G>A	ENSP00000387887.2:p.Arg330His
ENST00000473619.5:n.483G>A
ENST00000484849.5:n.1148G>A
ENST00000488669.5:n.483G>A
ENST00000620802.4:c.283-837G>A	ENSP00000484081.1:n.283-837G>A
NM_001136.4:c.941G>A	NP_001127.1:p.Arg314His
NM_001206929.1:c.989G>A	NP_001193858.1:p.Arg330His
NM_001206932.1:c.899G>A	NP_001193861.1:p.Arg300His
NM_001206934.1:c.989G>A	NP_001193863.1:p.Arg330His
NM_001206936.1:c.889G>A	NP_001193865.1:p.Val297Met
NM_001206940.1:c.941G>A	NP_001193869.1:p.Arg314His
NM_001206954.1:c.822+298G>A	NP_001193883.1:n.822+298G>A
NM_001206966.1:c.941G>A	NP_001193895.1:p.Arg314His
NM_172197.2:c.809+269G>A	NP_751947.1:n.809+269G>A
NR_038190.1:n.1224G>A
XM_017010328.2:c.963+298G>A	XP_016865817.1:n.963+298G>A
XR_001743189.2:n.1028+298G>A
XR_001743190.2:n.980+298G>A
NM_001136.5:c.941G>A MANE Select	NP_001127.1:p.Arg314His
NM_001206932.2:c.899G>A	NP_001193861.1:p.Arg300His
NM_001206936.2:c.889G>A	NP_001193865.1:p.Val297Met
NM_001206940.2:c.941G>A	NP_001193869.1:p.Arg314His
NM_001206954.2:c.822+298G>A	NP_001193883.1:n.822+298G>A
NM_001206966.2:c.941G>A	NP_001193895.1:p.Arg314His
NM_172197.3:c.809+269G>A	NP_751947.1:n.809+269G>A
NR_038190.2:n.1155G>A
NM_001206929.2:c.989G>A	NP_001193858.1:p.Arg330His
NM_001206934.2:c.989G>A	NP_001193863.1:p.Arg330His