Canonical Allele Identifier: CA363512907

Gene: AGER

Linked Data

• gnomAD v4: 6-32182249-A-G
• MyVariant Identifiers: chr6:g.32150026A>G (hg19) ; chr6:g.32182249A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182249A>G , CM000668.2:g.32182249A>G	GRCh38
NC_000006.11:g.32150026A>G , CM000668.1:g.32150026A>G	GRCh37
NC_000006.10:g.32258004A>G	NCBI36
NG_029868.1:g.7074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.962T>C MANE Select	ENSP00000364217.4:p.Ile321Thr
ENST00000375055.6:c.962T>C	ENSP00000364195.2:p.Ile321Thr
ENST00000375065.6:c.149T>C	ENSP00000364206.6:p.Ile50Thr
ENST00000375067.7:c.809+290T>C	ENSP00000364208.3:n.809+290T>C
ENST00000375069.7:c.1010T>C	ENSP00000364210.4:p.Ile337Thr
ENST00000375070.7:c.659T>C	ENSP00000364211.4:p.Ile220Thr
ENST00000375076.8:c.962T>C	ENSP00000364217.4:p.Ile321Thr
ENST00000438221.6:c.1010T>C	ENSP00000387887.2:p.Ile337Thr
ENST00000473619.5:n.504T>C
ENST00000484849.5:n.1169T>C
ENST00000488669.5:n.504T>C
ENST00000620802.4:c.283-816T>C	ENSP00000484081.1:n.283-816T>C
NM_001136.4:c.962T>C	NP_001127.1:p.Ile321Thr
NM_001206929.1:c.1010T>C	NP_001193858.1:p.Ile337Thr
NM_001206932.1:c.920T>C	NP_001193861.1:p.Ile307Thr
NM_001206934.1:c.1010T>C	NP_001193863.1:p.Ile337Thr
NM_001206936.1:c.910T>C	NP_001193865.1:p.Ser304Pro
NM_001206940.1:c.962T>C	NP_001193869.1:p.Ile321Thr
NM_001206954.1:c.822+319T>C	NP_001193883.1:n.822+319T>C
NM_001206966.1:c.962T>C	NP_001193895.1:p.Ile321Thr
NM_172197.2:c.809+290T>C	NP_751947.1:n.809+290T>C
NR_038190.1:n.1245T>C
XM_017010328.2:c.963+319T>C	XP_016865817.1:n.963+319T>C
XR_001743189.2:n.1028+319T>C
XR_001743190.2:n.980+319T>C
NM_001136.5:c.962T>C MANE Select	NP_001127.1:p.Ile321Thr
NM_001206932.2:c.920T>C	NP_001193861.1:p.Ile307Thr
NM_001206936.2:c.910T>C	NP_001193865.1:p.Ser304Pro
NM_001206940.2:c.962T>C	NP_001193869.1:p.Ile321Thr
NM_001206954.2:c.822+319T>C	NP_001193883.1:n.822+319T>C
NM_001206966.2:c.962T>C	NP_001193895.1:p.Ile321Thr
NM_172197.3:c.809+290T>C	NP_751947.1:n.809+290T>C
NR_038190.2:n.1176T>C
NM_001206929.2:c.1010T>C	NP_001193858.1:p.Ile337Thr
NM_001206934.2:c.1010T>C	NP_001193863.1:p.Ile337Thr