Canonical Allele Identifier: CA366964194
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880865T>G , CM000669.2:g.21880865T>G GRCh38
NC_000007.13:g.21920483T>G , CM000669.1:g.21920483T>G GRCh37
NC_000007.12:g.21887008T>G NCBI36
NG_012886.2:g.342651T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12359T>G MANE Select ENSP00000475939.1:p.Leu4120Arg
ENST00000328843.10:c.12380T>G ENSP00000330671.7:p.Leu4127Arg
ENST00000409508.7:c.12359T>G ENSP00000475939.1:p.Leu4120Arg
ENST00000620169.4:c.12380T>G ENSP00000481693.1:p.Leu4127Arg
NM_001277115.1:c.12359T>G NP_001264044.1:p.Leu4120Arg
NM_001277115.2:c.12359T>G MANE Select NP_001264044.1:p.Leu4120Arg