Canonical Allele Identifier: CA4502616
Gene: AKR1D1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.138088769G>T
GRCh37 chr7:g.137773515G>T
gnomAD v2:
7:137773515 G / T
gnomAD v3:
7:138088769 G / T
gnomAD v4:
chr7-138088769-G-T
Joint Max Group AF 0.00007988 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00008126 (NFE)
ClinVar RCV:
RCV000354707
RCV000778822
ClinVar Variation:
288160
dbSNP:
201988060
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138088769G>T , CM000669.2:g.138088769G>T GRCh38
NC_000007.13:g.137773515G>T , CM000669.1:g.137773515G>T GRCh37
NC_000007.12:g.137424055G>T NCBI36
NG_023342.1:g.17338G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242375.8:c.261+1G>T MANE Select ENSP00000242375.3:n.261+1G>T
ENST00000242375.7:c.261+1G>T ENSP00000242375.3:n.261+1G>T
ENST00000411726.6:c.261+1G>T ENSP00000402374.2:n.261+1G>T
ENST00000432161.5:c.261+1G>T ENSP00000389197.1:n.261+1G>T
ENST00000438242.1:c.94-2999G>T ENSP00000397042.1:n.94-2999G>T
ENST00000468877.2:n.222-3049G>T
NM_001190906.1:c.261+1G>T NP_001177835.1:n.261+1G>T
NM_001190907.1:c.261+1G>T NP_001177836.1:n.261+1G>T
NM_005989.3:c.261+1G>T NP_005980.1:n.261+1G>T
NM_005989.4:c.261+1G>T MANE Select NP_005980.1:n.261+1G>T
NM_001190906.2:c.261+1G>T NP_001177835.1:n.261+1G>T
NM_001190907.2:c.261+1G>T NP_001177836.1:n.261+1G>T
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