Canonical Allele Identifier: CA392553864

Gene: DNAAF4 DNAAF4-CCPG1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55498274A>T , CM000677.2:g.55498274A>T	GRCh38
NC_000015.9:g.55790472A>T , CM000677.1:g.55790472A>T	GRCh37
NC_000015.8:g.53577764A>T	NCBI36
NG_021213.1:g.14961T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_130810.4:c.56T>A (DNAAF4) MANE Select	NP_570722.2:p.Leu19Gln
ENST00000321149.7:c.56T>A (DNAAF4) MANE Select	ENSP00000323275.3:p.Leu19Gln
NM_001033559.2:c.56T>A (DNAAF4)	NP_001028731.1:p.Leu19Gln
NM_001033559.3:c.56T>A (DNAAF4)	NP_001028731.1:p.Leu19Gln
NM_001033560.1:c.56T>A (DNAAF4)	NP_001028732.1:p.Leu19Gln
NM_001033560.2:c.56T>A (DNAAF4)	NP_001028732.1:p.Leu19Gln
NM_130810.3:c.56T>A (DNAAF4)	NP_570722.2:p.Leu19Gln
NR_037923.1:n.311T>A (DNAAF4-CCPG1)
ENST00000348518.4:c.56T>A (DNAAF4)	ENSP00000299561.5:p.Leu19Gln
ENST00000448430.6:c.56T>A (DNAAF4)	ENSP00000403412.2:p.Leu19Gln
ENST00000457155.6:c.56T>A (DNAAF4)	ENSP00000402640.2:p.Leu19Gln
ENST00000519017.1:n.71T>A (DNAAF4)
ENST00000522437.1:c.56T>A (DNAAF4)	ENSP00000429219.1:p.Leu19Gln
ENST00000524160.5:c.56T>A (DNAAF4)	ENSP00000428097.1:p.Leu19Gln