Canonical Allele Identifier: CA117467
Gene: AKR1D1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.138091822C>T
GRCh37 chr7:g.137776568C>T
Revel Score:
ENST00000432161 0.485
ENST00000411726 0.485
ENST00000242375 (MANE Select) 0.485
ENST00000438242 0.485
gnomAD v2:
7:137776568 C / T
gnomAD v4:
chr7-138091822-C-T
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV000005707
ClinVar Variation:
5376
dbSNP:
121918343
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138091822C>T , CM000669.2:g.138091822C>T GRCh38
NC_000007.13:g.137776568C>T , CM000669.1:g.137776568C>T GRCh37
NC_000007.12:g.137427108C>T NCBI36
NG_023342.1:g.20391C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242375.8:c.316C>T MANE Select ENSP00000242375.3:p.Leu106Phe
ENST00000242375.7:c.316C>T ENSP00000242375.3:p.Leu106Phe
ENST00000411726.6:c.316C>T ENSP00000402374.2:p.Leu106Phe
ENST00000432161.5:c.316C>T ENSP00000389197.1:p.Leu106Phe
ENST00000438242.1:c.148C>T ENSP00000397042.1:p.Leu50Phe
ENST00000468877.2:n.226C>T
NM_001190906.1:c.316C>T NP_001177835.1:p.Leu106Phe
NM_001190907.1:c.316C>T NP_001177836.1:p.Leu106Phe
NM_005989.3:c.316C>T NP_005980.1:p.Leu106Phe
NM_005989.4:c.316C>T MANE Select NP_005980.1:p.Leu106Phe
NM_001190906.2:c.316C>T NP_001177835.1:p.Leu106Phe
NM_001190907.2:c.316C>T NP_001177836.1:p.Leu106Phe
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