Canonical Allele Identifier: CA366955133
Community Standard Title: NM_001277115.2(DNAH11):c.8563G>C (p.Gly2855Arg)
Gene: DNAH11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748632G>C , CM000669.2:g.21748632G>C GRCh38
NC_000007.13:g.21788250G>C , CM000669.1:g.21788250G>C GRCh37
NC_000007.12:g.21754775G>C NCBI36
NG_012886.2:g.210418G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001277115.2:c.8563G>C MANE Select NP_001264044.1:p.Gly2855Arg
ENST00000409508.8:c.8563G>C MANE Select ENSP00000475939.1:p.Gly2855Arg
NM_001277115.1:c.8563G>C NP_001264044.1:p.Gly2855Arg
ENST00000328843.10:c.8584G>C ENSP00000330671.7:p.Gly2862Arg
ENST00000409508.7:c.8563G>C ENSP00000475939.1:p.Gly2855Arg
ENST00000620169.4:c.8584G>C ENSP00000481693.1:p.Gly2862Arg
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