Canonical Allele Identifier: CA366932666
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21558994-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558994A>G , CM000669.2:g.21558994A>G GRCh38
NC_000007.13:g.21598612A>G , CM000669.1:g.21598612A>G GRCh37
NC_000007.12:g.21565137A>G NCBI36
NG_012886.2:g.20780A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.688A>G MANE Select ENSP00000475939.1:p.Asn230Asp
ENST00000328843.10:c.688A>G ENSP00000330671.7:p.Asn230Asp
ENST00000409508.7:c.688A>G ENSP00000475939.1:p.Asn230Asp
ENST00000620169.4:c.688A>G ENSP00000481693.1:p.Asn230Asp
NM_001277115.1:c.688A>G NP_001264044.1:p.Asn230Asp
NM_001277115.2:c.688A>G MANE Select NP_001264044.1:p.Asn230Asp