Canonical Allele Identifier: CA4493535
Gene: AKR1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.134451594C>T , CM000669.2:g.134451594C>T GRCh38
NC_000007.13:g.134136346C>T , CM000669.1:g.134136346C>T GRCh37
NC_000007.12:g.133786886C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000285930.9:c.226G>A MANE Select ENSP00000285930.3:p.Val76Ile
ENST00000285930.8:c.226G>A ENSP00000285930.3:p.Val76Ile
ENST00000426422.1:c.226G>A ENSP00000413205.1:p.Val76Ile
ENST00000434222.5:c.226G>A ENSP00000414399.1:p.Val76Ile
ENST00000462784.1:n.298G>A
ENST00000465351.5:n.266G>A
ENST00000467829.1:n.323G>A
ENST00000484592.5:n.294G>A
ENST00000487438.5:n.231G>A
ENST00000489022.5:n.293G>A
ENST00000491741.5:n.323G>A
ENST00000497983.5:n.291G>A
ENST00000498771.5:n.213G>A
NM_001628.2:c.226G>A NP_001619.1:p.Val76Ile
XM_005250234.2:c.-223G>A XP_005250291.1:n.-223G>A
NM_001346142.1:c.-207G>A NP_001333071.1:n.-207G>A
NM_001628.3:c.226G>A NP_001619.1:p.Val76Ile
NR_144376.1:n.356G>A
XM_005250234.3:c.-223G>A XP_005250291.1:n.-223G>A
XM_024446695.1:c.-906G>A XP_024302463.1:n.-906G>A
NM_001628.4:c.226G>A MANE Select NP_001619.1:p.Val76Ile
NR_144376.2:n.264G>A