Canonical Allele Identifier: CA454138894
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1782658864
gnomAD v3: 7-21543353-G-A
gnomAD v4: 7-21543353-G-A
MyVariant Identifiers: chr7:g.21582971G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543353G>A , CM000669.2:g.21543353G>A GRCh38
NC_000007.13:g.21582971G>A , CM000669.1:g.21582971G>A GRCh37
NC_000007.12:g.21549496G>A NCBI36
NG_012886.2:g.5139G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.108G>A MANE Select ENSP00000475939.1:p.Glu36=
ENST00000328843.10:c.108G>A ENSP00000330671.7:p.Glu36=
ENST00000409508.7:c.108G>A ENSP00000475939.1:p.Glu36=
ENST00000620169.4:c.108G>A ENSP00000481693.1:p.Glu36=
NM_001277115.1:c.108G>A NP_001264044.1:p.Glu36=
NM_001277115.2:c.108G>A MANE Select NP_001264044.1:p.Glu36=
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