Canonical Allele Identifier: CA366952568
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619142T>G , CM000669.2:g.21619142T>G GRCh38
NC_000007.13:g.21658760T>G , CM000669.1:g.21658760T>G GRCh37
NC_000007.12:g.21625285T>G NCBI36
NG_012886.2:g.80928T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4297T>G MANE Select ENSP00000475939.1:p.Leu1433Val
ENST00000328843.10:c.4312T>G ENSP00000330671.7:p.Leu1438Val
ENST00000409508.7:c.4297T>G ENSP00000475939.1:p.Leu1433Val
ENST00000465593.1:n.323T>G
ENST00000620169.4:c.4312T>G ENSP00000481693.1:p.Leu1438Val
NM_001277115.1:c.4297T>G NP_001264044.1:p.Leu1433Val
NM_001277115.2:c.4297T>G MANE Select NP_001264044.1:p.Leu1433Val