Canonical Allele Identifier: CA366933432
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21636014C>A , CM000669.2:g.21636014C>A GRCh38
NC_000007.13:g.21675632C>A , CM000669.1:g.21675632C>A GRCh37
NC_000007.12:g.21642157C>A NCBI36
NG_012886.2:g.97800C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4644C>A MANE Select ENSP00000475939.1:p.Ser1548Arg
ENST00000328843.10:c.4659C>A ENSP00000330671.7:p.Ser1553Arg
ENST00000409508.7:c.4644C>A ENSP00000475939.1:p.Ser1548Arg
ENST00000465593.1:n.670C>A
ENST00000620169.4:c.4659C>A ENSP00000481693.1:p.Ser1553Arg
NM_001277115.1:c.4644C>A NP_001264044.1:p.Ser1548Arg
NM_001277115.2:c.4644C>A MANE Select NP_001264044.1:p.Ser1548Arg