Canonical Allele Identifier: CA366949182
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816680G>A , CM000669.2:g.21816680G>A GRCh38
NC_000007.13:g.21856298G>A , CM000669.1:g.21856298G>A GRCh37
NC_000007.12:g.21822823G>A NCBI36
NG_012886.2:g.278466G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10546G>A MANE Select ENSP00000475939.1:p.Val3516Ile
ENST00000328843.10:c.10567G>A ENSP00000330671.7:p.Val3523Ile
ENST00000409508.7:c.10546G>A ENSP00000475939.1:p.Val3516Ile
ENST00000620169.4:c.10567G>A ENSP00000481693.1:p.Val3523Ile
NM_001277115.1:c.10546G>A NP_001264044.1:p.Val3516Ile
NM_001277115.2:c.10546G>A MANE Select NP_001264044.1:p.Val3516Ile