Canonical Allele Identifier: CA353115138

Gene: DNAH1

Linked Data

• ClinVar Variation Id: 2107010
• ClinVar RCV Id: RCV003017314
• MyVariant Identifiers: chr3:g.52387545G>A (hg19) ; chr3:g.52353529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52353529G>A , CM000665.2:g.52353529G>A	GRCh38
NC_000003.11:g.52387545G>A , CM000665.1:g.52387545G>A	GRCh37
NC_000003.10:g.52362585G>A	NCBI36
NG_052911.1:g.42211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.3376G>A MANE Select	ENSP00000401514.2:p.Ala1126Thr
ENST00000420323.6:c.3376G>A	ENSP00000401514.2:p.Ala1126Thr
ENST00000486752.5:n.3637G>A
ENST00000497875.1:n.3541G>A
NM_015512.4:c.3376G>A	NP_056327.4:p.Ala1126Thr
XM_011533577.1:c.3376G>A	XP_011531879.1:p.Ala1126Thr
XM_017006129.1:c.3376G>A	XP_016861618.1:p.Ala1126Thr
XM_017006130.1:c.3376G>A	XP_016861619.1:p.Ala1126Thr
XM_017006131.1:c.3376G>A	XP_016861620.1:p.Ala1126Thr
XM_017006132.1:c.3376G>A	XP_016861621.1:p.Ala1126Thr
XM_017006133.1:c.3376G>A	XP_016861622.1:p.Ala1126Thr
XR_001740098.1:n.6525G>A
XR_001740099.1:n.6525G>A
NM_015512.5:c.3376G>A MANE Select	NP_056327.4:p.Ala1126Thr