Canonical Allele Identifier: CA12493415
Community Standard Title: NM_017802.4(DNAAF5):c.906-125T>G
Gene: DNAAF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.741222T>G , CM000669.2:g.741222T>G GRCh38
NC_000007.13:g.780859T>G , CM000669.1:g.780859T>G GRCh37
NC_000007.12:g.747385T>G NCBI36
NG_033137.1:g.19522T>G

Transcript Alleles

HGVS Amino-acid Change
NM_017802.4:c.906-125T>G MANE Select NP_060272.3:n.906-125T>G
ENST00000297440.11:c.906-125T>G MANE Select ENSP00000297440.6:n.906-125T>G
NM_017802.3:c.906-125T>G NP_060272.3:n.906-125T>G
NR_075098.1:n.864-125T>G
NR_075098.2:n.866-125T>G
ENST00000297440.10:c.906-125T>G ENSP00000297440.6:n.906-125T>G
ENST00000437419.5:c.223-125T>G
ENST00000438961.1:n.375-125T>G
ENST00000440747.5:c.310-125T>G
XM_024446813.1:c.906-125T>G XP_024302581.1:n.906-125T>G
XM_024446814.1:c.300-125T>G XP_024302582.1:n.300-125T>G