Canonical Allele Identifier: CA366944531
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599961A>T , CM000669.2:g.21599961A>T GRCh38
NC_000007.13:g.21639579A>T , CM000669.1:g.21639579A>T GRCh37
NC_000007.12:g.21606104A>T NCBI36
NG_012886.2:g.61747A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.2842A>T MANE Select ENSP00000475939.1:p.Met948Leu
ENST00000328843.10:c.2842A>T ENSP00000330671.7:p.Met948Leu
ENST00000409508.7:c.2842A>T ENSP00000475939.1:p.Met948Leu
ENST00000620169.4:c.2842A>T ENSP00000481693.1:p.Met948Leu
NM_001277115.1:c.2842A>T NP_001264044.1:p.Met948Leu
NM_001277115.2:c.2842A>T MANE Select NP_001264044.1:p.Met948Leu