Canonical Allele Identifier: CA2713983876
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs2128042342
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880942T>A , CM000669.2:g.21880942T>A GRCh38
NC_000007.13:g.21920560T>A , CM000669.1:g.21920560T>A GRCh37
NC_000007.12:g.21887085T>A NCBI36
NG_012886.2:g.342728T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12387+49T>A MANE Select ENSP00000475939.1:n.12387+49T>A
ENST00000328843.10:c.12408+49T>A ENSP00000330671.7:n.12408+49T>A
ENST00000409508.7:c.12387+49T>A ENSP00000475939.1:n.12387+49T>A
ENST00000620169.4:c.12408+49T>A ENSP00000481693.1:n.12408+49T>A
NM_001277115.1:c.12387+49T>A NP_001264044.1:n.12387+49T>A
NM_001277115.2:c.12387+49T>A MANE Select NP_001264044.1:n.12387+49T>A
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