Canonical Allele Identifier: CA366944534
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599962T>C , CM000669.2:g.21599962T>C GRCh38
NC_000007.13:g.21639580T>C , CM000669.1:g.21639580T>C GRCh37
NC_000007.12:g.21606105T>C NCBI36
NG_012886.2:g.61748T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.2843T>C MANE Select ENSP00000475939.1:p.Met948Thr
ENST00000328843.10:c.2843T>C ENSP00000330671.7:p.Met948Thr
ENST00000409508.7:c.2843T>C ENSP00000475939.1:p.Met948Thr
ENST00000620169.4:c.2843T>C ENSP00000481693.1:p.Met948Thr
NM_001277115.1:c.2843T>C NP_001264044.1:p.Met948Thr
NM_001277115.2:c.2843T>C MANE Select NP_001264044.1:p.Met948Thr