Canonical Allele Identifier: CA15662763
Gene: AKR1C1 HGNC NCBI
AKR1C2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.4967567G>T
GRCh37 chr10:g.5009759G>T
gnomAD v2:
10:5009759 G / T
gnomAD v3:
10:4967567 G / T
gnomAD v4:
chr10-4967567-G-T
Joint Max Group AF 0.780998 (EAS)
Genomes Max Group AF 0.79078103 (EAS)
Exomes Max Group AF 0.74432485 (EAS)
dbSNP:
2904804
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.4967567G>T , CM000672.2:g.4967567G>T GRCh38
NC_000010.10:g.5009759G>T , CM000672.1:g.5009759G>T GRCh37
NC_000010.9:g.4999759G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380872.9:c.369+524G>T (AKR1C1) MANE Select ENSP00000370254.4:n.369+524G>T
ENST00000380859.1:c.375+524G>T (AKR1C1) ENSP00000370240.1:n.375+524G>T
ENST00000380872.8:c.369+524G>T (AKR1C1) ENSP00000370254.4:n.369+524G>T
ENST00000407674.5:c.929+24264C>A (AKR1C2) ENSP00000385221.2:n.929+24264C>A
ENST00000434459.6:c.369+524G>T (AKR1C1) ENSP00000412248.3:n.369+524G>T
ENST00000442997.5:c.269+524G>T (AKR1C1)
ENST00000477661.1:n.1085G>T (AKR1C1)
NM_001353.5:c.369+524G>T (AKR1C1) NP_001344.2:n.369+524G>T
XM_017015791.2:c.369+524G>T (AKR1C1) XP_016871280.1:n.369+524G>T
NM_001353.6:c.369+524G>T (AKR1C1) MANE Select NP_001344.2:n.369+524G>T
Search 100 bp 5'
Search 100 bp 3'