Canonical Allele Identifier: CA366963959
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880754C>A , CM000669.2:g.21880754C>A GRCh38
NC_000007.13:g.21920372C>A , CM000669.1:g.21920372C>A GRCh37
NC_000007.12:g.21886897C>A NCBI36
NG_012886.2:g.342540C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12248C>A MANE Select ENSP00000475939.1:p.Ser4083Tyr
ENST00000328843.10:c.12269C>A ENSP00000330671.7:p.Ser4090Tyr
ENST00000409508.7:c.12248C>A ENSP00000475939.1:p.Ser4083Tyr
ENST00000620169.4:c.12269C>A ENSP00000481693.1:p.Ser4090Tyr
NM_001277115.1:c.12248C>A NP_001264044.1:p.Ser4083Tyr
NM_001277115.2:c.12248C>A MANE Select NP_001264044.1:p.Ser4083Tyr