Canonical Allele Identifier: CA4179412
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs754443515
gnomAD v2: 7-21639441-G-T
gnomAD v4: 7-21599823-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599823G>T , CM000669.2:g.21599823G>T GRCh38
NC_000007.13:g.21639441G>T , CM000669.1:g.21639441G>T GRCh37
NC_000007.12:g.21605966G>T NCBI36
NG_012886.2:g.61609G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2704G>T MANE Select ENSP00000475939.1:p.Asp902Tyr
ENST00000328843.10:c.2704G>T ENSP00000330671.7:p.Asp902Tyr
ENST00000409508.7:c.2704G>T ENSP00000475939.1:p.Asp902Tyr
ENST00000620169.4:c.2704G>T ENSP00000481693.1:p.Asp902Tyr
NM_001277115.1:c.2704G>T NP_001264044.1:p.Asp902Tyr
NM_001277115.2:c.2704G>T MANE Select NP_001264044.1:p.Asp902Tyr