Canonical Allele Identifier: CA3738012

Gene: AGER

Linked Data

• dbSNP Id: rs529074355
• ExAC: 6:32150039 T / C
• gnomAD v2: 6-32150039-T-C
• gnomAD v3: 6-32182262-T-C
• gnomAD v4: 6-32182262-T-C
• MyVariant Identifiers: chr6:g.32150039T>C (hg19) ; chr6:g.32182262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182262T>C , CM000668.2:g.32182262T>C	GRCh38
NC_000006.11:g.32150039T>C , CM000668.1:g.32150039T>C	GRCh37
NC_000006.10:g.32258017T>C	NCBI36
NG_029868.1:g.7061A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.949A>G MANE Select	ENSP00000364217.4:p.Ser317Gly
ENST00000375055.6:c.949A>G	ENSP00000364195.2:p.Ser317Gly
ENST00000375065.6:c.136A>G	ENSP00000364206.6:p.Ser46Gly
ENST00000375067.7:c.809+277A>G	ENSP00000364208.3:n.809+277A>G
ENST00000375069.7:c.997A>G	ENSP00000364210.4:p.Ser333Gly
ENST00000375070.7:c.646A>G	ENSP00000364211.4:p.Ser216Gly
ENST00000375076.8:c.949A>G	ENSP00000364217.4:p.Ser317Gly
ENST00000438221.6:c.997A>G	ENSP00000387887.2:p.Ser333Gly
ENST00000473619.5:n.491A>G
ENST00000484849.5:n.1156A>G
ENST00000488669.5:n.491A>G
ENST00000620802.4:c.283-829A>G	ENSP00000484081.1:n.283-829A>G
NM_001136.4:c.949A>G	NP_001127.1:p.Ser317Gly
NM_001206929.1:c.997A>G	NP_001193858.1:p.Ser333Gly
NM_001206932.1:c.907A>G	NP_001193861.1:p.Ser303Gly
NM_001206934.1:c.997A>G	NP_001193863.1:p.Ser333Gly
NM_001206936.1:c.897A>G	NP_001193865.1:p.Ser299=
NM_001206940.1:c.949A>G	NP_001193869.1:p.Ser317Gly
NM_001206954.1:c.822+306A>G	NP_001193883.1:n.822+306A>G
NM_001206966.1:c.949A>G	NP_001193895.1:p.Ser317Gly
NM_172197.2:c.809+277A>G	NP_751947.1:n.809+277A>G
NR_038190.1:n.1232A>G
XM_017010328.2:c.963+306A>G	XP_016865817.1:n.963+306A>G
XR_001743189.2:n.1028+306A>G
XR_001743190.2:n.980+306A>G
NM_001136.5:c.949A>G MANE Select	NP_001127.1:p.Ser317Gly
NM_001206932.2:c.907A>G	NP_001193861.1:p.Ser303Gly
NM_001206936.2:c.897A>G	NP_001193865.1:p.Ser299=
NM_001206940.2:c.949A>G	NP_001193869.1:p.Ser317Gly
NM_001206954.2:c.822+306A>G	NP_001193883.1:n.822+306A>G
NM_001206966.2:c.949A>G	NP_001193895.1:p.Ser317Gly
NM_172197.3:c.809+277A>G	NP_751947.1:n.809+277A>G
NR_038190.2:n.1163A>G
NM_001206929.2:c.997A>G	NP_001193858.1:p.Ser333Gly
NM_001206934.2:c.997A>G	NP_001193863.1:p.Ser333Gly