Canonical Allele Identifier: CA490435093
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.55722886T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55430688T>A , CM000677.2:g.55430688T>A GRCh38
NC_000015.9:g.55722886T>A , CM000677.1:g.55722886T>A GRCh37
NC_000015.8:g.53510178T>A NCBI36
NG_021213.1:g.82547A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321149.7:c.1245A>T (DNAAF4) MANE Select ENSP00000323275.3:p.Gly415=
ENST00000348518.4:c.1245A>T (DNAAF4) ENSP00000299561.5:p.Gly415=
ENST00000448430.6:c.1047+4217A>T (DNAAF4) ENSP00000403412.2:n.1047+4217A>T
ENST00000457155.6:c.*8A>T (DNAAF4) ENSP00000402640.2:n.*8A>T
ENST00000524160.5:c.*480+1809A>T (DNAAF4) ENSP00000428097.1:n.*480+1809A>T
NM_001033559.2:c.*8A>T (DNAAF4) NP_001028731.1:n.*8A>T
NM_001033560.1:c.1047+4217A>T (DNAAF4) NP_001028732.1:n.1047+4217A>T
NM_130810.3:c.1245A>T (DNAAF4) NP_570722.2:p.Gly415=
NR_037923.1:n.1408+1809A>T (DNAAF4-CCPG1)
NM_130810.4:c.1245A>T (DNAAF4) MANE Select NP_570722.2:p.Gly415=
NM_001033559.3:c.*8A>T (DNAAF4) NP_001028731.1:n.*8A>T
NM_001033560.2:c.1047+4217A>T (DNAAF4) NP_001028732.1:n.1047+4217A>T