Canonical Allele Identifier: CA3738022

Gene: AGER

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182309C>G , CM000668.2:g.32182309C>G	GRCh38
NC_000006.11:g.32150086C>G , CM000668.1:g.32150086C>G	GRCh37
NC_000006.10:g.32258064C>G	NCBI36
NG_029868.1:g.7014G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001136.5:c.902G>C MANE Select	NP_001127.1:p.Cys301Ser
ENST00000375076.9:c.902G>C MANE Select	ENSP00000364217.4:p.Cys301Ser
NM_001136.4:c.902G>C	NP_001127.1:p.Cys301Ser
NM_001206929.1:c.950G>C	NP_001193858.1:p.Cys317Ser
NM_001206929.2:c.950G>C	NP_001193858.1:p.Cys317Ser
NM_001206932.1:c.860G>C	NP_001193861.1:p.Cys287Ser
NM_001206932.2:c.860G>C	NP_001193861.1:p.Cys287Ser
NM_001206934.1:c.950G>C	NP_001193863.1:p.Cys317Ser
NM_001206934.2:c.950G>C	NP_001193863.1:p.Cys317Ser
NM_001206936.1:c.850G>C	NP_001193865.1:p.Val284Leu
NM_001206936.2:c.850G>C	NP_001193865.1:p.Val284Leu
NM_001206940.1:c.902G>C	NP_001193869.1:p.Cys301Ser
NM_001206940.2:c.902G>C	NP_001193869.1:p.Cys301Ser
NM_001206954.1:c.822+259G>C	NP_001193883.1:n.822+259G>C
NM_001206954.2:c.822+259G>C	NP_001193883.1:n.822+259G>C
NM_001206966.1:c.902G>C	NP_001193895.1:p.Cys301Ser
NM_001206966.2:c.902G>C	NP_001193895.1:p.Cys301Ser
NM_172197.2:c.809+230G>C	NP_751947.1:n.809+230G>C
NM_172197.3:c.809+230G>C	NP_751947.1:n.809+230G>C
NR_038190.1:n.1185G>C
NR_038190.2:n.1116G>C
ENST00000375055.6:c.902G>C	ENSP00000364195.2:p.Cys301Ser
ENST00000375065.6:c.89G>C	ENSP00000364206.6:p.Cys30Ser
ENST00000375067.7:c.809+230G>C	ENSP00000364208.3:n.809+230G>C
ENST00000375069.7:c.950G>C	ENSP00000364210.4:p.Cys317Ser
ENST00000375070.7:c.599G>C	ENSP00000364211.4:p.Cys200Ser
ENST00000375076.8:c.902G>C	ENSP00000364217.4:p.Cys301Ser
ENST00000438221.6:c.950G>C	ENSP00000387887.2:p.Cys317Ser
ENST00000473619.5:n.444G>C
ENST00000484849.5:n.1109G>C
ENST00000488669.5:n.444G>C
ENST00000620802.4:c.283-876G>C	ENSP00000484081.1:n.283-876G>C
XM_017010328.2:c.963+259G>C	XP_016865817.1:n.963+259G>C
XR_001743189.2:n.1028+259G>C
XR_001743190.2:n.980+259G>C