Canonical Allele Identifier: CA2681986986
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21748481-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748481T>A , CM000669.2:g.21748481T>A GRCh38
NC_000007.13:g.21788099T>A , CM000669.1:g.21788099T>A GRCh37
NC_000007.12:g.21754624T>A NCBI36
NG_012886.2:g.210267T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8511-99T>A MANE Select ENSP00000475939.1:n.8511-99T>A
ENST00000328843.10:c.8532-99T>A ENSP00000330671.7:n.8532-99T>A
ENST00000409508.7:c.8511-99T>A ENSP00000475939.1:n.8511-99T>A
ENST00000620169.4:c.8532-99T>A ENSP00000481693.1:n.8532-99T>A
NM_001277115.1:c.8511-99T>A NP_001264044.1:n.8511-99T>A
NM_001277115.2:c.8511-99T>A MANE Select NP_001264044.1:n.8511-99T>A