Canonical Allele Identifier: CA2681986974
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21748472-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748472G>A , CM000669.2:g.21748472G>A GRCh38
NC_000007.13:g.21788090G>A , CM000669.1:g.21788090G>A GRCh37
NC_000007.12:g.21754615G>A NCBI36
NG_012886.2:g.210258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8511-108G>A MANE Select ENSP00000475939.1:n.8511-108G>A
ENST00000328843.10:c.8532-108G>A ENSP00000330671.7:n.8532-108G>A
ENST00000409508.7:c.8511-108G>A ENSP00000475939.1:n.8511-108G>A
ENST00000620169.4:c.8532-108G>A ENSP00000481693.1:n.8532-108G>A
NM_001277115.1:c.8511-108G>A NP_001264044.1:n.8511-108G>A
NM_001277115.2:c.8511-108G>A MANE Select NP_001264044.1:n.8511-108G>A