Canonical Allele Identifier: CA363519340

Gene: AGER

Linked Data

• dbSNP Id: rs1429914100
• gnomAD v2: 6-32151425-C-T
• gnomAD v4: 6-32183648-C-T
• MyVariant Identifiers: chr6:g.32151425C>T (hg19) ; chr6:g.32183648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32183648C>T , CM000668.2:g.32183648C>T	GRCh38
NC_000006.11:g.32151425C>T , CM000668.1:g.32151425C>T	GRCh37
NC_000006.10:g.32259403C>T	NCBI36
NG_029868.1:g.5675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.262G>A MANE Select	ENSP00000364217.4:p.Ala88Thr
ENST00000375055.6:c.262G>A	ENSP00000364195.2:p.Ala88Thr
ENST00000375056.6:c.262G>A	ENSP00000364196.2:p.Ala88Thr
ENST00000375065.6:c.-182+310G>A	ENSP00000364206.6:n.-182+310G>A
ENST00000375067.7:c.220G>A	ENSP00000364208.3:p.Ala74Thr
ENST00000375069.7:c.262G>A	ENSP00000364210.4:p.Ala88Thr
ENST00000375070.7:c.-42G>A	ENSP00000364211.4:n.-42G>A
ENST00000375076.8:c.262G>A	ENSP00000364217.4:p.Ala88Thr
ENST00000438221.6:c.262G>A	ENSP00000387887.2:p.Ala88Thr
ENST00000450110.5:c.262G>A	ENSP00000398466.1:p.Ala88Thr
ENST00000484849.5:n.469G>A
ENST00000538695.2:c.262G>A	ENSP00000445389.1:p.Ala88Thr
ENST00000620802.4:c.262G>A	ENSP00000484081.1:p.Ala88Thr
NM_001136.4:c.262G>A	NP_001127.1:p.Ala88Thr
NM_001206929.1:c.262G>A	NP_001193858.1:p.Ala88Thr
NM_001206932.1:c.220G>A	NP_001193861.1:p.Ala74Thr
NM_001206934.1:c.262G>A	NP_001193863.1:p.Ala88Thr
NM_001206936.1:c.262G>A	NP_001193865.1:p.Ala88Thr
NM_001206940.1:c.262G>A	NP_001193869.1:p.Ala88Thr
NM_001206954.1:c.262G>A	NP_001193883.1:p.Ala88Thr
NM_001206966.1:c.262G>A	NP_001193895.1:p.Ala88Thr
NM_172197.2:c.220G>A	NP_751947.1:p.Ala74Thr
NR_038190.1:n.545G>A
XM_017010328.2:c.355G>A	XP_016865817.1:p.Ala119Thr
XR_001743189.2:n.420G>A
XR_001743190.2:n.420G>A
NM_001136.5:c.262G>A MANE Select	NP_001127.1:p.Ala88Thr
NM_001206932.2:c.220G>A	NP_001193861.1:p.Ala74Thr
NM_001206936.2:c.262G>A	NP_001193865.1:p.Ala88Thr
NM_001206940.2:c.262G>A	NP_001193869.1:p.Ala88Thr
NM_001206954.2:c.262G>A	NP_001193883.1:p.Ala88Thr
NM_001206966.2:c.262G>A	NP_001193895.1:p.Ala88Thr
NM_172197.3:c.220G>A	NP_751947.1:p.Ala74Thr
NR_038190.2:n.476G>A
NM_001206929.2:c.262G>A	NP_001193858.1:p.Ala88Thr
NM_001206934.2:c.262G>A	NP_001193863.1:p.Ala88Thr