Canonical Allele Identifier: CA363518869

Gene: AGER

Linked Data

• dbSNP Id: rs1453036075
• gnomAD v2: 6-32151344-C-T
• gnomAD v4: 6-32183567-C-T
• MyVariant Identifiers: chr6:g.32151344C>T (hg19) ; chr6:g.32183567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183567C>T , CM000668.2:g.32183567C>T	GRCh38
NC_000006.11:g.32151344C>T , CM000668.1:g.32151344C>T	GRCh37
NC_000006.10:g.32259322C>T	NCBI36
NG_029868.1:g.5756G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.343G>A MANE Select	ENSP00000364217.4:p.Val115Ile
ENST00000375055.6:c.343G>A	ENSP00000364195.2:p.Val115Ile
ENST00000375056.6:c.343G>A	ENSP00000364196.2:p.Val115Ile
ENST00000375065.6:c.-182+391G>A	ENSP00000364206.6:n.-182+391G>A
ENST00000375067.7:c.301G>A	ENSP00000364208.3:p.Val101Ile
ENST00000375069.7:c.343G>A	ENSP00000364210.4:p.Val115Ile
ENST00000375070.7:c.40G>A	ENSP00000364211.4:p.Val14Ile
ENST00000375076.8:c.343G>A	ENSP00000364217.4:p.Val115Ile
ENST00000438221.6:c.343G>A	ENSP00000387887.2:p.Val115Ile
ENST00000450110.5:c.342+1G>A	ENSP00000398466.1:n.342+1G>A
ENST00000484849.5:n.550G>A
ENST00000538695.2:c.343G>A	ENSP00000445389.1:p.Val115Ile
ENST00000620802.4:c.282+61G>A	ENSP00000484081.1:n.282+61G>A
NM_001136.4:c.343G>A	NP_001127.1:p.Val115Ile
NM_001206929.1:c.343G>A	NP_001193858.1:p.Val115Ile
NM_001206932.1:c.301G>A	NP_001193861.1:p.Val101Ile
NM_001206934.1:c.343G>A	NP_001193863.1:p.Val115Ile
NM_001206936.1:c.343G>A	NP_001193865.1:p.Val115Ile
NM_001206940.1:c.343G>A	NP_001193869.1:p.Val115Ile
NM_001206954.1:c.343G>A	NP_001193883.1:p.Val115Ile
NM_001206966.1:c.343G>A	NP_001193895.1:p.Val115Ile
NM_172197.2:c.301G>A	NP_751947.1:p.Val101Ile
NR_038190.1:n.626G>A
XM_017010328.2:c.436G>A	XP_016865817.1:p.Val146Ile
XR_001743189.2:n.501G>A
XR_001743190.2:n.501G>A
NM_001136.5:c.343G>A MANE Select	NP_001127.1:p.Val115Ile
NM_001206932.2:c.301G>A	NP_001193861.1:p.Val101Ile
NM_001206936.2:c.343G>A	NP_001193865.1:p.Val115Ile
NM_001206940.2:c.343G>A	NP_001193869.1:p.Val115Ile
NM_001206954.2:c.343G>A	NP_001193883.1:p.Val115Ile
NM_001206966.2:c.343G>A	NP_001193895.1:p.Val115Ile
NM_172197.3:c.301G>A	NP_751947.1:p.Val101Ile
NR_038190.2:n.557G>A
NM_001206929.2:c.343G>A	NP_001193858.1:p.Val115Ile
NM_001206934.2:c.343G>A	NP_001193863.1:p.Val115Ile