Canonical Allele Identifier: CA2432582
Gene: DNAH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544654
dbSNP Id: rs202174386
gnomAD v2: 3-52356727-C-T
gnomAD v3: 3-52322711-C-T
gnomAD v4: 3-52322711-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52322711C>T , CM000665.2:g.52322711C>T GRCh38
NC_000003.11:g.52356727C>T , CM000665.1:g.52356727C>T GRCh37
NC_000003.10:g.52331767C>T NCBI36
NG_052911.1:g.11393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000420323.7:c.269C>T MANE Select ENSP00000401514.2:p.Pro90Leu
ENST00000420323.6:c.269C>T ENSP00000401514.2:p.Pro90Leu
ENST00000486752.5:n.530C>T
ENST00000497875.1:n.434C>T
NM_015512.4:c.269C>T NP_056327.4:p.Pro90Leu
XM_011533577.1:c.269C>T XP_011531879.1:p.Pro90Leu
XM_017006129.1:c.269C>T XP_016861618.1:p.Pro90Leu
XM_017006130.1:c.269C>T XP_016861619.1:p.Pro90Leu
XM_017006131.1:c.269C>T XP_016861620.1:p.Pro90Leu
XM_017006132.1:c.269C>T XP_016861621.1:p.Pro90Leu
XM_017006133.1:c.269C>T XP_016861622.1:p.Pro90Leu
XR_001740098.1:n.3418C>T
XR_001740099.1:n.3418C>T
NM_015512.5:c.269C>T MANE Select NP_056327.4:p.Pro90Leu