Canonical Allele Identifier: CA453964899
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs556335619

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21705462T>C , CM000669.2:g.21705462T>C GRCh38
NC_000007.13:g.21745080T>C , CM000669.1:g.21745080T>C GRCh37
NC_000007.12:g.21711605T>C NCBI36
NG_012886.2:g.167248T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.6471T>C MANE Select ENSP00000475939.1:p.Val2157=
ENST00000328843.10:c.6492T>C ENSP00000330671.7:p.Val2164=
ENST00000409508.7:c.6471T>C ENSP00000475939.1:p.Val2157=
ENST00000620169.4:c.6492T>C ENSP00000481693.1:p.Val2164=
NM_001277115.1:c.6471T>C NP_001264044.1:p.Val2157=
NM_001277115.2:c.6471T>C MANE Select NP_001264044.1:p.Val2157=