Canonical Allele Identifier: CA490435082
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.55722883T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55430685T>A , CM000677.2:g.55430685T>A GRCh38
NC_000015.9:g.55722883T>A , CM000677.1:g.55722883T>A GRCh37
NC_000015.8:g.53510175T>A NCBI36
NG_021213.1:g.82550A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000321149.7:c.1248A>T (DNAAF4) MANE Select ENSP00000323275.3:p.Thr416=
ENST00000348518.4:c.1248A>T (DNAAF4) ENSP00000299561.5:p.Thr416=
ENST00000448430.6:c.1047+4220A>T (DNAAF4) ENSP00000403412.2:n.1047+4220A>T
ENST00000457155.6:c.*11A>T (DNAAF4) ENSP00000402640.2:n.*11A>T
ENST00000524160.5:c.*480+1812A>T (DNAAF4) ENSP00000428097.1:n.*480+1812A>T
NM_001033559.2:c.*11A>T (DNAAF4) NP_001028731.1:n.*11A>T
NM_001033560.1:c.1047+4220A>T (DNAAF4) NP_001028732.1:n.1047+4220A>T
NM_130810.3:c.1248A>T (DNAAF4) NP_570722.2:p.Thr416=
NR_037923.1:n.1408+1812A>T (DNAAF4-CCPG1)
NM_130810.4:c.1248A>T (DNAAF4) MANE Select NP_570722.2:p.Thr416=
NM_001033559.3:c.*11A>T (DNAAF4) NP_001028731.1:n.*11A>T
NM_001033560.2:c.1047+4220A>T (DNAAF4) NP_001028732.1:n.1047+4220A>T