Canonical Allele Identifier: CA4181340
Community Standard Title: NM_001277115.2(DNAH11):c.7765G>A (p.Val2589Ile)
Gene: DNAH11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21738820G>A , CM000669.2:g.21738820G>A GRCh38
NC_000007.13:g.21778438G>A , CM000669.1:g.21778438G>A GRCh37
NC_000007.12:g.21744963G>A NCBI36
NG_012886.2:g.200606G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001277115.2:c.7765G>A MANE Select NP_001264044.1:p.Val2589Ile
ENST00000409508.8:c.7765G>A MANE Select ENSP00000475939.1:p.Val2589Ile
NM_001277115.1:c.7765G>A NP_001264044.1:p.Val2589Ile
ENST00000328843.10:c.7786G>A ENSP00000330671.7:p.Val2596Ile
ENST00000409508.7:c.7765G>A ENSP00000475939.1:p.Val2589Ile
ENST00000605912.1:c.325G>A ENSP00000476068.1:p.Val109Ile
ENST00000620169.4:c.7786G>A ENSP00000481693.1:p.Val2596Ile
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