Canonical Allele Identifier: CA401235948

Gene: DNAH17

Linked Data

• MyVariant Identifiers: chr17:g.76421535A>T (hg19) ; chr17:g.78425454A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78425454A>T , CM000679.2:g.78425454A>T	GRCh38
NC_000017.10:g.76421535A>T , CM000679.1:g.76421535A>T	GRCh37
NC_000017.9:g.73933130A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389840.7:c.13033T>A MANE Select	ENSP00000374490.6:p.Trp4345Arg
ENST00000389840.6:c.13033T>A	ENSP00000374490.6:p.Trp4345Arg
ENST00000585328.5:c.13018T>A	ENSP00000465516.1:p.Trp4340Arg
ENST00000586052.5:n.6194T>A
ENST00000590227.5:n.2707T>A
ENST00000591369.5:c.4655T>A
NM_173628.3:c.13033T>A	NP_775899.3:p.Trp4345Arg
XM_011525416.1:c.13045T>A	XP_011523718.1:p.Trp4349Arg
XM_011525418.1:c.6412T>A	XP_011523720.1:p.Trp2138Arg
XM_011525416.2:c.13045T>A	XP_011523718.1:p.Trp4349Arg
XM_017025261.2:c.6379T>A	XP_016880750.1:p.Trp2127Arg
XM_024451013.1:c.12901T>A	XP_024306781.1:p.Trp4301Arg
NM_173628.4:c.13033T>A MANE Select	NP_775899.3:p.Trp4345Arg