Canonical Allele Identifier: CA4182214
Community Standard Title: NM_001277115.2(DNAH11):c.10041T>A (p.Asn3347Lys)
Gene: DNAH11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21801151T>A , CM000669.2:g.21801151T>A GRCh38
NC_000007.13:g.21840769T>A , CM000669.1:g.21840769T>A GRCh37
NC_000007.12:g.21807294T>A NCBI36
NG_012886.2:g.262937T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001277115.2:c.10041T>A MANE Select NP_001264044.1:p.Asn3347Lys
ENST00000409508.8:c.10041T>A MANE Select ENSP00000475939.1:p.Asn3347Lys
NM_001277115.1:c.10041T>A NP_001264044.1:p.Asn3347Lys
ENST00000328843.10:c.10062T>A ENSP00000330671.7:p.Asn3354Lys
ENST00000409508.7:c.10041T>A ENSP00000475939.1:p.Asn3347Lys
ENST00000620169.4:c.10062T>A ENSP00000481693.1:p.Asn3354Lys
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