Canonical Allele Identifier: CA304691913
Gene: NDUFA11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5893045G>A , CM000681.2:g.5893045G>A GRCh38
NC_000019.9:g.5893056G>A , CM000681.1:g.5893056G>A GRCh37
NC_000019.8:g.5844056G>A NCBI36
NG_027808.1:g.15969C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001193375.1:c.559C>T NP_001180304.1:p.Arg187Trp
NM_001193375.2:c.559C>T NP_001180304.1:p.Arg187Trp
NM_001193375.3:c.559C>T NP_001180304.1:p.Arg187Trp
ENST00000418389.6:c.559C>T ENSP00000389160.1:p.Arg187Trp
ENST00000585661.1:c.308+3408C>T
ENST00000586349.5:c.383+3408C>T
ENST00000592091.5:c.313+3408C>T ENSP00000465499.1:n.313+3408C>T