Canonical Allele Identifier: CA366932675
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558998A>C , CM000669.2:g.21558998A>C GRCh38
NC_000007.13:g.21598616A>C , CM000669.1:g.21598616A>C GRCh37
NC_000007.12:g.21565141A>C NCBI36
NG_012886.2:g.20784A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.692A>C MANE Select ENSP00000475939.1:p.Lys231Thr
ENST00000328843.10:c.692A>C ENSP00000330671.7:p.Lys231Thr
ENST00000409508.7:c.692A>C ENSP00000475939.1:p.Lys231Thr
ENST00000620169.4:c.692A>C ENSP00000481693.1:p.Lys231Thr
NM_001277115.1:c.692A>C NP_001264044.1:p.Lys231Thr
NM_001277115.2:c.692A>C MANE Select NP_001264044.1:p.Lys231Thr