Canonical Allele Identifier: CA449826562

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32150040G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182263G>C , CM000668.2:g.32182263G>C	GRCh38
NC_000006.11:g.32150040G>C , CM000668.1:g.32150040G>C	GRCh37
NC_000006.10:g.32258018G>C	NCBI36
NG_029868.1:g.7060C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.948C>G MANE Select	ENSP00000364217.4:p.Val316=
ENST00000375055.6:c.948C>G	ENSP00000364195.2:p.Val316=
ENST00000375065.6:c.135C>G	ENSP00000364206.6:p.Val45=
ENST00000375067.7:c.809+276C>G	ENSP00000364208.3:n.809+276C>G
ENST00000375069.7:c.996C>G	ENSP00000364210.4:p.Val332=
ENST00000375070.7:c.645C>G	ENSP00000364211.4:p.Val215=
ENST00000375076.8:c.948C>G	ENSP00000364217.4:p.Val316=
ENST00000438221.6:c.996C>G	ENSP00000387887.2:p.Val332=
ENST00000473619.5:n.490C>G
ENST00000484849.5:n.1155C>G
ENST00000488669.5:n.490C>G
ENST00000620802.4:c.283-830C>G	ENSP00000484081.1:n.283-830C>G
NM_001136.4:c.948C>G	NP_001127.1:p.Val316=
NM_001206929.1:c.996C>G	NP_001193858.1:p.Val332=
NM_001206932.1:c.906C>G	NP_001193861.1:p.Val302=
NM_001206934.1:c.996C>G	NP_001193863.1:p.Val332=
NM_001206936.1:c.896C>G	NP_001193865.1:p.Ser299Ter
NM_001206940.1:c.948C>G	NP_001193869.1:p.Val316=
NM_001206954.1:c.822+305C>G	NP_001193883.1:n.822+305C>G
NM_001206966.1:c.948C>G	NP_001193895.1:p.Val316=
NM_172197.2:c.809+276C>G	NP_751947.1:n.809+276C>G
NR_038190.1:n.1231C>G
XM_017010328.2:c.963+305C>G	XP_016865817.1:n.963+305C>G
XR_001743189.2:n.1028+305C>G
XR_001743190.2:n.980+305C>G
NM_001136.5:c.948C>G MANE Select	NP_001127.1:p.Val316=
NM_001206932.2:c.906C>G	NP_001193861.1:p.Val302=
NM_001206936.2:c.896C>G	NP_001193865.1:p.Ser299Ter
NM_001206940.2:c.948C>G	NP_001193869.1:p.Val316=
NM_001206954.2:c.822+305C>G	NP_001193883.1:n.822+305C>G
NM_001206966.2:c.948C>G	NP_001193895.1:p.Val316=
NM_172197.3:c.809+276C>G	NP_751947.1:n.809+276C>G
NR_038190.2:n.1162C>G
NM_001206929.2:c.996C>G	NP_001193858.1:p.Val332=
NM_001206934.2:c.996C>G	NP_001193863.1:p.Val332=