Canonical Allele Identifier: CA366932424
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558884A>T , CM000669.2:g.21558884A>T GRCh38
NC_000007.13:g.21598502A>T , CM000669.1:g.21598502A>T GRCh37
NC_000007.12:g.21565027A>T NCBI36
NG_012886.2:g.20670A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.578A>T MANE Select ENSP00000475939.1:p.Glu193Val
ENST00000328843.10:c.578A>T ENSP00000330671.7:p.Glu193Val
ENST00000409508.7:c.578A>T ENSP00000475939.1:p.Glu193Val
ENST00000620169.4:c.578A>T ENSP00000481693.1:p.Glu193Val
NM_001277115.1:c.578A>T NP_001264044.1:p.Glu193Val
NM_001277115.2:c.578A>T MANE Select NP_001264044.1:p.Glu193Val