Canonical Allele Identifier: CA366940207
Gene: DNAH11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21710606C>T , CM000669.2:g.21710606C>T GRCh38
NC_000007.13:g.21750224C>T , CM000669.1:g.21750224C>T GRCh37
NC_000007.12:g.21716749C>T NCBI36
NG_012886.2:g.172392C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.6737C>T MANE Select ENSP00000475939.1:p.Ala2246Val
ENST00000328843.10:c.6758C>T ENSP00000330671.7:p.Ala2253Val
ENST00000409508.7:c.6737C>T ENSP00000475939.1:p.Ala2246Val
ENST00000620169.4:c.6758C>T ENSP00000481693.1:p.Ala2253Val
NM_001277115.1:c.6737C>T NP_001264044.1:p.Ala2246Val
NM_001277115.2:c.6737C>T MANE Select NP_001264044.1:p.Ala2246Val