Canonical Allele Identifier: CA366933773
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21636082-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21636082A>T , CM000669.2:g.21636082A>T GRCh38
NC_000007.13:g.21675700A>T , CM000669.1:g.21675700A>T GRCh37
NC_000007.12:g.21642225A>T NCBI36
NG_012886.2:g.97868A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4712A>T MANE Select ENSP00000475939.1:p.Asp1571Val
ENST00000328843.10:c.4727A>T ENSP00000330671.7:p.Asp1576Val
ENST00000409508.7:c.4712A>T ENSP00000475939.1:p.Asp1571Val
ENST00000620169.4:c.4727A>T ENSP00000481693.1:p.Asp1576Val
NM_001277115.1:c.4712A>T NP_001264044.1:p.Asp1571Val
NM_001277115.2:c.4712A>T MANE Select NP_001264044.1:p.Asp1571Val