Canonical Allele Identifier: CA9740072
Community Standard Title: NM_014948.4(UBOX5):c.-42+11897C>T
Gene: FASTKD5 HGNC NCBI
UBOX5 HGNC NCBI
UBOX5-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3147869G>A , CM000682.2:g.3147869G>A GRCh38
NC_000020.10:g.3128515G>A , CM000682.1:g.3128515G>A GRCh37
NC_000020.9:g.3076515G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014948.4:c.-42+11897C>T (UBOX5) MANE Select NP_055763.1:n.-42+11897C>T
NM_021826.5:c.1202C>T (FASTKD5) MANE Select NP_068598.1:p.Ser401Leu
ENST00000217173.7:c.-42+11897C>T (UBOX5) MANE Select ENSP00000217173.2:n.-42+11897C>T
ENST00000380266.4:c.1202C>T (FASTKD5) MANE Select ENSP00000369618.3:p.Ser401Leu
NM_001267584.1:c.-42+11897C>T (UBOX5) NP_001254513.1:n.-42+11897C>T
NM_001267584.2:c.-42+11897C>T (UBOX5) NP_001254513.1:n.-42+11897C>T
NM_014948.3:c.-42+11897C>T (UBOX5) NP_055763.1:n.-42+11897C>T
NM_021826.4:c.1202C>T (FASTKD5) NP_068598.1:p.Ser401Leu
NM_199415.2:c.-42+11897C>T (UBOX5) NP_955447.1:n.-42+11897C>T
NM_199415.3:c.-42+11897C>T (UBOX5) NP_955447.1:n.-42+11897C>T
NR_038395.1:n.1465-2669G>A (UBOX5-AS1)
ENST00000217173.6:c.-42+11897C>T (UBOX5) ENSP00000217173.2:n.-42+11897C>T
ENST00000348031.6:c.-42+11897C>T (UBOX5) ENSP00000311726.3:n.-42+11897C>T
ENST00000380266.3:c.1202C>T (FASTKD5) ENSP00000369618.3:p.Ser401Leu
ENST00000449731.1:c.-42+8815C>T (UBOX5) ENSP00000404364.1:n.-42+8815C>T
ENST00000686392.1:n.3879C>T (FASTKD5)
ENST00000687419.1:c.1202C>T (FASTKD5) ENSP00000510780.1:p.Ser401Leu
ENST00000688674.1:c.1202C>T (FASTKD5) ENSP00000510078.1:p.Ser401Leu
ENST00000692371.1:c.1202C>T (FASTKD5) ENSP00000510038.1:p.Ser401Leu