Canonical Allele Identifier: CA353115359

Gene: DNAH1

Linked Data

• MyVariant Identifiers: chr3:g.52387611G>C (hg19) ; chr3:g.52353595G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52353595G>C , CM000665.2:g.52353595G>C	GRCh38
NC_000003.11:g.52387611G>C , CM000665.1:g.52387611G>C	GRCh37
NC_000003.10:g.52362651G>C	NCBI36
NG_052911.1:g.42277G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.3442G>C MANE Select	ENSP00000401514.2:p.Val1148Leu
ENST00000420323.6:c.3442G>C	ENSP00000401514.2:p.Val1148Leu
ENST00000486752.5:n.3703G>C
ENST00000497875.1:n.3607G>C
NM_015512.4:c.3442G>C	NP_056327.4:p.Val1148Leu
XM_011533577.1:c.3442G>C	XP_011531879.1:p.Val1148Leu
XM_017006129.1:c.3442G>C	XP_016861618.1:p.Val1148Leu
XM_017006130.1:c.3442G>C	XP_016861619.1:p.Val1148Leu
XM_017006131.1:c.3442G>C	XP_016861620.1:p.Val1148Leu
XM_017006132.1:c.3442G>C	XP_016861621.1:p.Val1148Leu
XM_017006133.1:c.3442G>C	XP_016861622.1:p.Val1148Leu
XR_001740098.1:n.6591G>C
XR_001740099.1:n.6591G>C
NM_015512.5:c.3442G>C MANE Select	NP_056327.4:p.Val1148Leu