Canonical Allele Identifier: CA363519357
Gene: AGER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32183653A>C , CM000668.2:g.32183653A>C GRCh38
NC_000006.11:g.32151430A>C , CM000668.1:g.32151430A>C GRCh37
NC_000006.10:g.32259408A>C NCBI36
NG_029868.1:g.5670T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375076.9:c.257T>G MANE Select ENSP00000364217.4:p.Leu86Arg
ENST00000375055.6:c.257T>G ENSP00000364195.2:p.Leu86Arg
ENST00000375056.6:c.257T>G ENSP00000364196.2:p.Leu86Arg
ENST00000375065.6:c.-182+305T>G ENSP00000364206.6:n.-182+305T>G
ENST00000375067.7:c.215T>G ENSP00000364208.3:p.Leu72Arg
ENST00000375069.7:c.257T>G ENSP00000364210.4:p.Leu86Arg
ENST00000375070.7:c.-47T>G ENSP00000364211.4:n.-47T>G
ENST00000375076.8:c.257T>G ENSP00000364217.4:p.Leu86Arg
ENST00000438221.6:c.257T>G ENSP00000387887.2:p.Leu86Arg
ENST00000450110.5:c.257T>G ENSP00000398466.1:p.Leu86Arg
ENST00000484849.5:n.464T>G
ENST00000538695.2:c.257T>G ENSP00000445389.1:p.Leu86Arg
ENST00000620802.4:c.257T>G ENSP00000484081.1:p.Leu86Arg
NM_001136.4:c.257T>G NP_001127.1:p.Leu86Arg
NM_001206929.1:c.257T>G NP_001193858.1:p.Leu86Arg
NM_001206932.1:c.215T>G NP_001193861.1:p.Leu72Arg
NM_001206934.1:c.257T>G NP_001193863.1:p.Leu86Arg
NM_001206936.1:c.257T>G NP_001193865.1:p.Leu86Arg
NM_001206940.1:c.257T>G NP_001193869.1:p.Leu86Arg
NM_001206954.1:c.257T>G NP_001193883.1:p.Leu86Arg
NM_001206966.1:c.257T>G NP_001193895.1:p.Leu86Arg
NM_172197.2:c.215T>G NP_751947.1:p.Leu72Arg
NR_038190.1:n.540T>G
XM_017010328.2:c.350T>G XP_016865817.1:p.Leu117Arg
XR_001743189.2:n.415T>G
XR_001743190.2:n.415T>G
NM_001136.5:c.257T>G MANE Select NP_001127.1:p.Leu86Arg
NM_001206932.2:c.215T>G NP_001193861.1:p.Leu72Arg
NM_001206936.2:c.257T>G NP_001193865.1:p.Leu86Arg
NM_001206940.2:c.257T>G NP_001193869.1:p.Leu86Arg
NM_001206954.2:c.257T>G NP_001193883.1:p.Leu86Arg
NM_001206966.2:c.257T>G NP_001193895.1:p.Leu86Arg
NM_172197.3:c.215T>G NP_751947.1:p.Leu72Arg
NR_038190.2:n.471T>G
NM_001206929.2:c.257T>G NP_001193858.1:p.Leu86Arg
NM_001206934.2:c.257T>G NP_001193863.1:p.Leu86Arg