Canonical Allele Identifier: CA155121247
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs924103736

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748599T>A , CM000669.2:g.21748599T>A GRCh38
NC_000007.13:g.21788217T>A , CM000669.1:g.21788217T>A GRCh37
NC_000007.12:g.21754742T>A NCBI36
NG_012886.2:g.210385T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8530T>A MANE Select ENSP00000475939.1:p.Leu2844Ile
ENST00000328843.10:c.8551T>A ENSP00000330671.7:p.Leu2851Ile
ENST00000409508.7:c.8530T>A ENSP00000475939.1:p.Leu2844Ile
ENST00000620169.4:c.8551T>A ENSP00000481693.1:p.Leu2851Ile
NM_001277115.1:c.8530T>A NP_001264044.1:p.Leu2844Ile
NM_001277115.2:c.8530T>A MANE Select NP_001264044.1:p.Leu2844Ile