Canonical Allele Identifier: CA366938189
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21705506T>A , CM000669.2:g.21705506T>A GRCh38
NC_000007.13:g.21745124T>A , CM000669.1:g.21745124T>A GRCh37
NC_000007.12:g.21711649T>A NCBI36
NG_012886.2:g.167292T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.6515T>A MANE Select ENSP00000475939.1:p.Val2172Glu
ENST00000328843.10:c.6536T>A ENSP00000330671.7:p.Val2179Glu
ENST00000409508.7:c.6515T>A ENSP00000475939.1:p.Val2172Glu
ENST00000620169.4:c.6536T>A ENSP00000481693.1:p.Val2179Glu
NM_001277115.1:c.6515T>A NP_001264044.1:p.Val2172Glu
NM_001277115.2:c.6515T>A MANE Select NP_001264044.1:p.Val2172Glu