Canonical Allele Identifier: CA353115220

Gene: DNAH1

Linked Data

• MyVariant Identifiers: chr3:g.52387569C>G (hg19) ; chr3:g.52353553C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52353553C>G , CM000665.2:g.52353553C>G	GRCh38
NC_000003.11:g.52387569C>G , CM000665.1:g.52387569C>G	GRCh37
NC_000003.10:g.52362609C>G	NCBI36
NG_052911.1:g.42235C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.3400C>G MANE Select	ENSP00000401514.2:p.Leu1134Val
ENST00000420323.6:c.3400C>G	ENSP00000401514.2:p.Leu1134Val
ENST00000486752.5:n.3661C>G
ENST00000497875.1:n.3565C>G
NM_015512.4:c.3400C>G	NP_056327.4:p.Leu1134Val
XM_011533577.1:c.3400C>G	XP_011531879.1:p.Leu1134Val
XM_017006129.1:c.3400C>G	XP_016861618.1:p.Leu1134Val
XM_017006130.1:c.3400C>G	XP_016861619.1:p.Leu1134Val
XM_017006131.1:c.3400C>G	XP_016861620.1:p.Leu1134Val
XM_017006132.1:c.3400C>G	XP_016861621.1:p.Leu1134Val
XM_017006133.1:c.3400C>G	XP_016861622.1:p.Leu1134Val
XR_001740098.1:n.6549C>G
XR_001740099.1:n.6549C>G
NM_015512.5:c.3400C>G MANE Select	NP_056327.4:p.Leu1134Val