Canonical Allele Identifier: CA375882628

Gene: AKR1E2

Linked Data

• gnomAD v4: 10-4839755-G-C
• MyVariant Identifiers: chr10:g.4881947G>C (hg19) ; chr10:g.4839755G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.4839755G>C , CM000672.2:g.4839755G>C	GRCh38
NC_000010.10:g.4881947G>C , CM000672.1:g.4881947G>C	GRCh37
NC_000010.9:g.4871947G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000298375.12:c.609G>C MANE Select	ENSP00000298375.7:p.Gln203His
ENST00000298375.11:c.609G>C	ENSP00000298375.7:p.Gln203His
ENST00000334019.4:c.582+2174G>C	ENSP00000335034.4:n.582+2174G>C
ENST00000345253.9:c.460-2666G>C	ENSP00000335603.5:n.460-2666G>C
ENST00000441590.5:n.370+2174G>C
ENST00000462718.7:n.622G>C
ENST00000463345.5:c.609G>C	ENSP00000436794.1:p.Gln203His
ENST00000474119.5:c.297G>C	ENSP00000434437.1:p.Gln99His
ENST00000525281.5:n.535+2174G>C
ENST00000525572.1:c.362G>C
ENST00000532248.5:c.582+2174G>C	ENSP00000432947.1:n.582+2174G>C
NM_001040177.2:c.609G>C	NP_001035267.1:p.Gln203His
NM_001271021.1:c.582+2174G>C	NP_001257950.1:n.582+2174G>C
NM_001271025.1:c.460-2666G>C	NP_001257954.1:n.460-2666G>C
NR_073125.1:n.757G>C
NR_073126.1:n.671G>C
NR_073127.1:n.730+2174G>C
XM_006717514.2:c.465+2174G>C	XP_006717577.1:n.465+2174G>C
XM_011519715.1:c.672G>C	XP_011518017.1:p.Gln224His
XM_011519716.1:c.672G>C	XP_011518018.1:p.Gln224His
XM_011519717.1:c.555G>C	XP_011518019.1:p.Gln185His
XM_011519718.1:c.672G>C	XP_011518020.1:p.Gln224His
XM_011519719.1:c.672G>C	XP_011518021.1:p.Gln224His
XM_011519720.1:c.672G>C	XP_011518022.1:p.Gln224His
XM_011519721.1:c.672G>C	XP_011518023.1:p.Gln224His
XM_011519722.1:c.672G>C	XP_011518024.1:p.Gln224His
XM_011519723.1:c.672G>C	XP_011518025.1:p.Gln224His
XM_011519724.1:c.645+2174G>C	XP_011518026.1:n.645+2174G>C
XM_011519725.1:c.672G>C	XP_011518027.1:p.Gln224His
XM_011519726.1:c.523-2666G>C	XP_011518028.1:n.523-2666G>C
XM_011519727.1:c.465+2174G>C	XP_011518029.1:n.465+2174G>C
XM_011519728.1:c.297G>C	XP_011518030.1:p.Gln99His
XM_011519729.1:c.646-2030G>C	XP_011518031.1:n.646-2030G>C
XR_930518.1:n.1044G>C
XR_930519.1:n.1045G>C
XR_930520.1:n.1044G>C
XM_011519715.2:c.672G>C	XP_011518017.1:p.Gln224His
XM_011519718.2:c.672G>C	XP_011518020.1:p.Gln224His
XM_011519719.2:c.672G>C	XP_011518021.1:p.Gln224His
XM_011519720.2:c.672G>C	XP_011518022.1:p.Gln224His
XM_011519722.2:c.672G>C	XP_011518024.1:p.Gln224His
XM_011519724.2:c.645+2174G>C	XP_011518026.1:n.645+2174G>C
XM_011519725.2:c.672G>C	XP_011518027.1:p.Gln224His
XM_017016743.1:c.672G>C	XP_016872232.1:p.Gln224His
XM_017016744.1:c.672G>C	XP_016872233.1:p.Gln224His
XM_017016745.1:c.297G>C	XP_016872234.1:p.Gln99His
XM_024448224.1:c.492G>C	XP_024303992.1:p.Gln164His
XM_024448225.1:c.609G>C	XP_024303993.1:p.Gln203His
XM_024448226.1:c.523-2666G>C	XP_024303994.1:n.523-2666G>C
XR_001747220.1:n.1054G>C
XR_001747221.1:n.724G>C
XR_001747222.1:n.1054G>C
XR_001747223.1:n.1743+2174G>C
XR_002957024.1:n.1025-2030G>C
XR_930518.2:n.1053G>C
XR_930519.2:n.1054G>C
XR_930520.2:n.1053G>C
NM_001040177.3:c.609G>C MANE Select	NP_001035267.1:p.Gln203His
NM_001271021.2:c.582+2174G>C	NP_001257950.1:n.582+2174G>C
NM_001271025.2:c.460-2666G>C	NP_001257954.1:n.460-2666G>C
NR_073125.2:n.727G>C
NR_073127.2:n.700+2174G>C