Canonical Allele Identifier: CA366932186
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558806T>A , CM000669.2:g.21558806T>A GRCh38
NC_000007.13:g.21598424T>A , CM000669.1:g.21598424T>A GRCh37
NC_000007.12:g.21564949T>A NCBI36
NG_012886.2:g.20592T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.500T>A MANE Select ENSP00000475939.1:p.Leu167Ter
ENST00000328843.10:c.500T>A ENSP00000330671.7:p.Leu167Ter
ENST00000409508.7:c.500T>A ENSP00000475939.1:p.Leu167Ter
ENST00000620169.4:c.500T>A ENSP00000481693.1:p.Leu167Ter
NM_001277115.1:c.500T>A NP_001264044.1:p.Leu167Ter
NM_001277115.2:c.500T>A MANE Select NP_001264044.1:p.Leu167Ter