Canonical Allele Identifier: CA343807
Gene: DNAAF5 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.780097T>C
GRCh37 chr7:g.819734T>C
Revel Score:
ENST00000297440 (MANE Select) 0.605
ENST00000313147 0.605
ENST00000537862 0.605
ENST00000403952 0.605
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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
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