Canonical Allele Identifier: CA2838292549
Gene: FASTKD5 HGNC NCBI
UBOX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3154897A>G , CM000682.2:g.3154897A>G GRCh38
NC_000020.10:g.3135543A>G , CM000682.1:g.3135543A>G GRCh37
NC_000020.9:g.3083543A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000687419.1:c.-191+968T>C (FASTKD5) ENSP00000510780.1:n.-191+968T>C
ENST00000688674.1:c.-731-4115T>C (FASTKD5) ENSP00000510078.1:n.-731-4115T>C
ENST00000692371.1:c.-191+1176T>C (FASTKD5) ENSP00000510038.1:n.-191+1176T>C
ENST00000217173.7:c.-42+4869T>C (UBOX5) MANE Select ENSP00000217173.2:n.-42+4869T>C
ENST00000380266.4:c.-191+4869T>C (FASTKD5) MANE Select ENSP00000369618.3:n.-191+4869T>C
ENST00000217173.6:c.-42+4869T>C (UBOX5) ENSP00000217173.2:n.-42+4869T>C
ENST00000348031.6:c.-42+4869T>C (UBOX5) ENSP00000311726.3:n.-42+4869T>C
ENST00000380266.3:c.-191+4869T>C (FASTKD5) ENSP00000369618.3:n.-191+4869T>C
ENST00000449731.1:c.-42+1787T>C (UBOX5) ENSP00000404364.1:n.-42+1787T>C
NM_001267584.1:c.-42+4869T>C (UBOX5) NP_001254513.1:n.-42+4869T>C
NM_014948.3:c.-42+4869T>C (UBOX5) NP_055763.1:n.-42+4869T>C
NM_021826.4:c.-191+4869T>C (FASTKD5) NP_068598.1:n.-191+4869T>C
NM_199415.2:c.-42+4869T>C (UBOX5) NP_955447.1:n.-42+4869T>C
NM_014948.4:c.-42+4869T>C (UBOX5) MANE Select NP_055763.1:n.-42+4869T>C
NM_021826.5:c.-191+4869T>C (FASTKD5) MANE Select NP_068598.1:n.-191+4869T>C
NM_001267584.2:c.-42+4869T>C (UBOX5) NP_001254513.1:n.-42+4869T>C
NM_199415.3:c.-42+4869T>C (UBOX5) NP_955447.1:n.-42+4869T>C