Canonical Allele Identifier: CA366931142
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1307384309
gnomAD v4: 7-21543349-T-A
MyVariant Identifiers: chr7:g.21582967T>A (hg19) chr7:g.21543349T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543349T>A , CM000669.2:g.21543349T>A GRCh38
NC_000007.13:g.21582967T>A , CM000669.1:g.21582967T>A GRCh37
NC_000007.12:g.21549492T>A NCBI36
NG_012886.2:g.5135T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.104T>A MANE Select ENSP00000475939.1:p.Leu35His
ENST00000328843.10:c.104T>A ENSP00000330671.7:p.Leu35His
ENST00000409508.7:c.104T>A ENSP00000475939.1:p.Leu35His
ENST00000620169.4:c.104T>A ENSP00000481693.1:p.Leu35His
NM_001277115.1:c.104T>A NP_001264044.1:p.Leu35His
NM_001277115.2:c.104T>A MANE Select NP_001264044.1:p.Leu35His
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