Canonical Allele Identifier: CA13316136
Community Standard Title: NM_001040177.3(AKR1E2):c.459+131A>C
Gene: AKR1E2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.4835940A>C , CM000672.2:g.4835940A>C GRCh38
NC_000010.10:g.4878132A>C , CM000672.1:g.4878132A>C GRCh37
NC_000010.9:g.4868132A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001040177.3:c.459+131A>C MANE Select NP_001035267.1:n.459+131A>C
ENST00000298375.12:c.459+131A>C MANE Select ENSP00000298375.7:n.459+131A>C
NM_001040177.2:c.459+131A>C NP_001035267.1:n.459+131A>C
NM_001271021.1:c.459+131A>C NP_001257950.1:n.459+131A>C
NM_001271021.2:c.459+131A>C NP_001257950.1:n.459+131A>C
NM_001271025.1:c.459+131A>C NP_001257954.1:n.459+131A>C
NM_001271025.2:c.459+131A>C NP_001257954.1:n.459+131A>C
NR_073125.1:n.607+131A>C
NR_073125.2:n.577+131A>C
NR_073126.1:n.521+131A>C
NR_073127.1:n.607+131A>C
NR_073127.2:n.577+131A>C
ENST00000298375.11:c.459+131A>C ENSP00000298375.7:n.459+131A>C
ENST00000334019.4:c.459+131A>C ENSP00000335034.4:n.459+131A>C
ENST00000345253.9:c.459+131A>C ENSP00000335603.5:n.459+131A>C
ENST00000441590.5:n.247+131A>C
ENST00000462718.7:n.472+131A>C
ENST00000463345.5:c.459+131A>C ENSP00000436794.1:n.459+131A>C
ENST00000474119.5:c.147+131A>C ENSP00000434437.1:n.147+131A>C
ENST00000525281.5:n.412+131A>C
ENST00000525572.1:c.212+131A>C
ENST00000525627.1:n.196-1503A>C
ENST00000532248.5:c.459+131A>C ENSP00000432947.1:n.459+131A>C
ENST00000533295.5:c.471+131A>C ENSP00000435436.1:n.471+131A>C
XM_006717514.2:c.342+131A>C XP_006717577.1:n.342+131A>C
XM_011519715.1:c.522+131A>C XP_011518017.1:n.522+131A>C
XM_011519715.2:c.522+131A>C XP_011518017.1:n.522+131A>C
XM_011519716.1:c.522+131A>C XP_011518018.1:n.522+131A>C
XM_011519717.1:c.405+131A>C XP_011518019.1:n.405+131A>C
XM_011519718.1:c.522+131A>C XP_011518020.1:n.522+131A>C
XM_011519718.2:c.522+131A>C XP_011518020.1:n.522+131A>C
XM_011519719.1:c.522+131A>C XP_011518021.1:n.522+131A>C
XM_011519719.2:c.522+131A>C XP_011518021.1:n.522+131A>C
XM_011519720.1:c.522+131A>C XP_011518022.1:n.522+131A>C
XM_011519720.2:c.522+131A>C XP_011518022.1:n.522+131A>C
XM_011519721.1:c.522+131A>C XP_011518023.1:n.522+131A>C
XM_011519722.1:c.522+131A>C XP_011518024.1:n.522+131A>C
XM_011519722.2:c.522+131A>C XP_011518024.1:n.522+131A>C
XM_011519723.1:c.522+131A>C XP_011518025.1:n.522+131A>C
XM_011519724.1:c.522+131A>C XP_011518026.1:n.522+131A>C
XM_011519724.2:c.522+131A>C XP_011518026.1:n.522+131A>C
XM_011519725.1:c.522+131A>C XP_011518027.1:n.522+131A>C
XM_011519725.2:c.522+131A>C XP_011518027.1:n.522+131A>C
XM_011519726.1:c.522+131A>C XP_011518028.1:n.522+131A>C
XM_011519727.1:c.342+131A>C XP_011518029.1:n.342+131A>C
XM_011519728.1:c.147+131A>C XP_011518030.1:n.147+131A>C
XM_011519729.1:c.522+131A>C XP_011518031.1:n.522+131A>C
XM_017016743.1:c.522+131A>C XP_016872232.1:n.522+131A>C
XM_017016744.1:c.522+131A>C XP_016872233.1:n.522+131A>C
XM_017016745.1:c.147+131A>C XP_016872234.1:n.147+131A>C
XM_024448224.1:c.342+131A>C XP_024303992.1:n.342+131A>C
XM_024448225.1:c.459+131A>C XP_024303993.1:n.459+131A>C
XM_024448226.1:c.522+131A>C XP_024303994.1:n.522+131A>C
XR_001747220.1:n.904+131A>C
XR_001747221.1:n.574+131A>C
XR_001747222.1:n.904+131A>C
XR_001747223.1:n.1620+131A>C
XR_002957024.1:n.901+131A>C
XR_930518.1:n.894+131A>C
XR_930518.2:n.903+131A>C
XR_930519.1:n.895+131A>C
XR_930519.2:n.904+131A>C
XR_930520.1:n.894+131A>C
XR_930520.2:n.903+131A>C