Canonical Allele Identifier: CA343807

Gene: DNAAF5

Linked Data

• ClinVar Variation Id: 39684
• ClinVar RCV Id: RCV000032886 ; RCV000629303 ; RCV002273938
• dbSNP Id: rs397514561
• MyVariant Identifiers: chr7:g.819734T>C (hg19) ; chr7:g.780097T>C (hg38)
• PubMed: PMID:20301301 ; PMID:23040496

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.780097T>C , CM000669.2:g.780097T>C	GRCh38
NC_000007.13:g.819734T>C , CM000669.1:g.819734T>C	GRCh37
NC_000007.12:g.786260T>C	NCBI36
NG_033137.1:g.58397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297440.11:c.2384T>C MANE Select	ENSP00000297440.6:p.Leu795Pro
ENST00000297440.10:c.2384T>C	ENSP00000297440.6:p.Leu795Pro
ENST00000403952.3:c.659T>C	ENSP00000384884.3:p.Leu220Pro
ENST00000440747.5:c.1788T>C
ENST00000461576.1:n.194T>C
NM_017802.3:c.2384T>C	NP_060272.3:p.Leu795Pro
NR_075098.1:n.2342T>C
XM_024446813.1:c.2239+4935T>C	XP_024302581.1:n.2239+4935T>C
XM_024446814.1:c.1778T>C	XP_024302582.1:p.Leu593Pro
NM_017802.4:c.2384T>C MANE Select	NP_060272.3:p.Leu795Pro
NR_075098.2:n.2344T>C