Canonical Allele Identifier: CA4326490
Gene: CROT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87391639G>A , CM000669.2:g.87391639G>A GRCh38
NC_000007.13:g.87020955G>A , CM000669.1:g.87020955G>A GRCh37
NC_000007.12:g.86858891G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331536.8:c.1352G>A MANE Select ENSP00000331981.4:p.Arg451His
ENST00000331536.7:c.1352G>A ENSP00000331981.3:p.Arg451His
ENST00000419147.6:c.1436G>A ENSP00000413575.2:p.Arg479His
ENST00000442291.1:c.1352G>A ENSP00000411983.1:p.Arg451His
NM_001143935.1:c.1436G>A NP_001137407.1:p.Arg479His
NM_021151.3:c.1352G>A NP_066974.2:p.Arg451His
XM_011516337.1:c.1352G>A XP_011514639.1:p.Arg451His
XM_011516337.3:c.1352G>A XP_011514639.1:p.Arg451His
XM_017012370.1:c.521G>A XP_016867859.1:p.Arg174His
NM_001143935.2:c.1436G>A NP_001137407.1:p.Arg479His
NM_021151.4:c.1352G>A MANE Select NP_066974.2:p.Arg451His