Canonical Allele Identifier: CA202259419
Community Standard Title: NC_000010.11:g.4826082G>C
Gene: AKR1E2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.4826082G>C , CM000672.2:g.4826082G>C GRCh38
NC_000010.10:g.4868274G>C , CM000672.1:g.4868274G>C GRCh37
NC_000010.9:g.4858274G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000462718.7:n.53-4593G>C
ENST00000533295.5:c.51+1044G>C ENSP00000435436.1:n.51+1044G>C
XM_006717514.2:c.-243G>C XP_006717577.1:n.-243G>C
XM_011519715.1:c.102+1044G>C XP_011518017.1:n.102+1044G>C
XM_011519715.2:c.102+1044G>C XP_011518017.1:n.102+1044G>C
XM_011519716.1:c.102+1044G>C XP_011518018.1:n.102+1044G>C
XM_011519717.1:c.102+1044G>C XP_011518019.1:n.102+1044G>C
XM_011519718.1:c.102+1044G>C XP_011518020.1:n.102+1044G>C
XM_011519718.2:c.102+1044G>C XP_011518020.1:n.102+1044G>C
XM_011519719.1:c.102+1044G>C XP_011518021.1:n.102+1044G>C
XM_011519719.2:c.102+1044G>C XP_011518021.1:n.102+1044G>C
XM_011519720.1:c.102+1044G>C XP_011518022.1:n.102+1044G>C
XM_011519720.2:c.102+1044G>C XP_011518022.1:n.102+1044G>C
XM_011519721.1:c.102+1044G>C XP_011518023.1:n.102+1044G>C
XM_011519722.1:c.102+1044G>C XP_011518024.1:n.102+1044G>C
XM_011519722.2:c.102+1044G>C XP_011518024.1:n.102+1044G>C
XM_011519723.1:c.102+1044G>C XP_011518025.1:n.102+1044G>C
XM_011519724.1:c.102+1044G>C XP_011518026.1:n.102+1044G>C
XM_011519724.2:c.102+1044G>C XP_011518026.1:n.102+1044G>C
XM_011519725.1:c.102+1044G>C XP_011518027.1:n.102+1044G>C
XM_011519725.2:c.102+1044G>C XP_011518027.1:n.102+1044G>C
XM_011519726.1:c.102+1044G>C XP_011518028.1:n.102+1044G>C
XM_011519727.1:c.-243G>C XP_011518029.1:n.-243G>C
XM_011519728.1:c.-469G>C XP_011518030.1:n.-469G>C
XM_011519729.1:c.102+1044G>C XP_011518031.1:n.102+1044G>C
XM_017016743.1:c.102+1044G>C XP_016872232.1:n.102+1044G>C
XM_017016744.1:c.102+1044G>C XP_016872233.1:n.102+1044G>C
XM_024448224.1:c.-243G>C XP_024303992.1:n.-243G>C
XM_024448226.1:c.102+1044G>C XP_024303994.1:n.102+1044G>C
XR_001747220.1:n.484+1044G>C
XR_001747222.1:n.484+1044G>C
XR_001747223.1:n.1036G>C
XR_002957024.1:n.481+1044G>C
XR_930518.1:n.474+1044G>C
XR_930518.2:n.483+1044G>C
XR_930519.1:n.475+1044G>C
XR_930519.2:n.484+1044G>C
XR_930520.1:n.474+1044G>C
XR_930520.2:n.483+1044G>C