Canonical Allele Identifier: CA1099205678
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1783719831
gnomAD v3: 7-21567578-G-T
gnomAD v4: 7-21567578-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21567578G>T , CM000669.2:g.21567578G>T GRCh38
NC_000007.13:g.21607196G>T , CM000669.1:g.21607196G>T GRCh37
NC_000007.12:g.21573721G>T NCBI36
NG_012886.2:g.29364G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.1195-2491G>T MANE Select ENSP00000475939.1:n.1195-2491G>T
ENST00000328843.10:c.1195-2491G>T ENSP00000330671.7:n.1195-2491G>T
ENST00000409508.7:c.1195-2491G>T ENSP00000475939.1:n.1195-2491G>T
ENST00000496218.1:n.81-2491G>T
ENST00000620169.4:c.1195-2491G>T ENSP00000481693.1:n.1195-2491G>T
NM_001277115.1:c.1195-2491G>T NP_001264044.1:n.1195-2491G>T
XR_927090.1:n.563+5748C>A
XR_001745114.1:n.2793+5748C>A
NM_001277115.2:c.1195-2491G>T MANE Select NP_001264044.1:n.1195-2491G>T
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