Canonical Allele Identifier: CA572919969
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1163853566
gnomAD v2: 7-21744963-T-A
gnomAD v3: 7-21705345-T-A
gnomAD v4: 7-21705345-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21705345T>A , CM000669.2:g.21705345T>A GRCh38
NC_000007.13:g.21744963T>A , CM000669.1:g.21744963T>A GRCh37
NC_000007.12:g.21711488T>A NCBI36
NG_012886.2:g.167131T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.6469-115T>A MANE Select ENSP00000475939.1:n.6469-115T>A
ENST00000328843.10:c.6490-115T>A ENSP00000330671.7:n.6490-115T>A
ENST00000409508.7:c.6469-115T>A ENSP00000475939.1:n.6469-115T>A
ENST00000620169.4:c.6490-115T>A ENSP00000481693.1:n.6490-115T>A
NM_001277115.1:c.6469-115T>A NP_001264044.1:n.6469-115T>A
NM_001277115.2:c.6469-115T>A MANE Select NP_001264044.1:n.6469-115T>A