Canonical Allele Identifier: CA502114887
Gene: DNAH17 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.76563156A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78567074A>G , CM000679.2:g.78567074A>G GRCh38
NC_000017.10:g.76563156A>G , CM000679.1:g.76563156A>G GRCh37
NC_000017.9:g.74074751A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000389840.7:c.1377T>C MANE Select ENSP00000374490.6:p.Arg459=
ENST00000389840.6:c.1377T>C ENSP00000374490.6:p.Arg459=
ENST00000585328.5:c.1377T>C ENSP00000465516.1:p.Arg459=
ENST00000589793.1:n.589T>C
NM_173628.3:c.1377T>C NP_775899.3:p.Arg459=
XM_011525416.1:c.1377T>C XP_011523718.1:p.Arg459=
XM_011525417.1:c.1377T>C XP_011523719.1:p.Arg459=
XR_934583.1:n.1538T>C
XM_011525416.2:c.1377T>C XP_011523718.1:p.Arg459=
XM_024451013.1:c.1377T>C XP_024306781.1:p.Arg459=
XM_024451014.1:c.1377T>C XP_024306782.1:p.Arg459=
XR_002958080.1:n.1540T>C
XR_002958081.1:n.1544T>C
NM_173628.4:c.1377T>C MANE Select NP_775899.3:p.Arg459=