Canonical Allele Identifier: CA366944177
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599866T>C , CM000669.2:g.21599866T>C GRCh38
NC_000007.13:g.21639484T>C , CM000669.1:g.21639484T>C GRCh37
NC_000007.12:g.21606009T>C NCBI36
NG_012886.2:g.61652T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2747T>C MANE Select ENSP00000475939.1:p.Val916Ala
ENST00000328843.10:c.2747T>C ENSP00000330671.7:p.Val916Ala
ENST00000409508.7:c.2747T>C ENSP00000475939.1:p.Val916Ala
ENST00000620169.4:c.2747T>C ENSP00000481693.1:p.Val916Ala
NM_001277115.1:c.2747T>C NP_001264044.1:p.Val916Ala
NM_001277115.2:c.2747T>C MANE Select NP_001264044.1:p.Val916Ala