Canonical Allele Identifier: CA4182012
Community Standard Title: NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro)
Gene: DNAH11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21784442A>C , CM000669.2:g.21784442A>C GRCh38
NC_000007.13:g.21824060A>C , CM000669.1:g.21824060A>C GRCh37
NC_000007.12:g.21790585A>C NCBI36
NG_012886.2:g.246228A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001277115.2:c.9499A>C MANE Select NP_001264044.1:p.Thr3167Pro
ENST00000409508.8:c.9499A>C MANE Select ENSP00000475939.1:p.Thr3167Pro
NM_001277115.1:c.9499A>C NP_001264044.1:p.Thr3167Pro
ENST00000328843.10:c.9520A>C ENSP00000330671.7:p.Thr3174Pro
ENST00000409508.7:c.9499A>C ENSP00000475939.1:p.Thr3167Pro
ENST00000620169.4:c.9520A>C ENSP00000481693.1:p.Thr3174Pro
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