Canonical Allele Identifier: CA7574865

Gene: DNAAF4 DNAAF4-CCPG1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55434964G>A , CM000677.2:g.55434964G>A	GRCh38
NC_000015.9:g.55727162G>A , CM000677.1:g.55727162G>A	GRCh37
NC_000015.8:g.53514454G>A	NCBI36
NG_021213.1:g.78271C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_130810.4:c.988C>T (DNAAF4) MANE Select	NP_570722.2:p.Arg330Trp
ENST00000321149.7:c.988C>T (DNAAF4) MANE Select	ENSP00000323275.3:p.Arg330Trp
NM_001033559.2:c.988C>T (DNAAF4)	NP_001028731.1:p.Arg330Trp
NM_001033559.3:c.988C>T (DNAAF4)	NP_001028731.1:p.Arg330Trp
NM_001033560.1:c.988C>T (DNAAF4)	NP_001028732.1:p.Arg330Trp
NM_001033560.2:c.988C>T (DNAAF4)	NP_001028732.1:p.Arg330Trp
NM_130810.3:c.988C>T (DNAAF4)	NP_570722.2:p.Arg330Trp
NR_037923.1:n.1243C>T (DNAAF4-CCPG1)
ENST00000348518.4:c.988C>T (DNAAF4)	ENSP00000299561.5:p.Arg330Trp
ENST00000448430.6:c.988C>T (DNAAF4)	ENSP00000403412.2:p.Arg330Trp
ENST00000457155.6:c.988C>T (DNAAF4)	ENSP00000402640.2:p.Arg330Trp
ENST00000524160.5:c.*315C>T (DNAAF4)	ENSP00000428097.1:n.*315C>T