Canonical Allele Identifier: CA502114812
Gene: DNAH17 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.76563087T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78567005T>C , CM000679.2:g.78567005T>C GRCh38
NC_000017.10:g.76563087T>C , CM000679.1:g.76563087T>C GRCh37
NC_000017.9:g.74074682T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000389840.7:c.1446A>G MANE Select ENSP00000374490.6:p.Gly482=
ENST00000389840.6:c.1446A>G ENSP00000374490.6:p.Gly482=
ENST00000585328.5:c.1446A>G ENSP00000465516.1:p.Gly482=
ENST00000589793.1:n.658A>G
NM_173628.3:c.1446A>G NP_775899.3:p.Gly482=
XM_011525416.1:c.1446A>G XP_011523718.1:p.Gly482=
XM_011525417.1:c.1446A>G XP_011523719.1:p.Gly482=
XR_934583.1:n.1607A>G
XM_011525416.2:c.1446A>G XP_011523718.1:p.Gly482=
XM_024451013.1:c.1446A>G XP_024306781.1:p.Gly482=
XM_024451014.1:c.1446A>G XP_024306782.1:p.Gly482=
XR_002958080.1:n.1609A>G
XR_002958081.1:n.1613A>G
NM_173628.4:c.1446A>G MANE Select NP_775899.3:p.Gly482=