Canonical Allele Identifier: CA401286751

Gene: DNAH17

Linked Data

• MyVariant Identifiers: chr17:g.76563109T>A (hg19) ; chr17:g.78567027T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78567027T>A , CM000679.2:g.78567027T>A	GRCh38
NC_000017.10:g.76563109T>A , CM000679.1:g.76563109T>A	GRCh37
NC_000017.9:g.74074704T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389840.7:c.1424A>T MANE Select	ENSP00000374490.6:p.Lys475Ile
ENST00000389840.6:c.1424A>T	ENSP00000374490.6:p.Lys475Ile
ENST00000585328.5:c.1424A>T	ENSP00000465516.1:p.Lys475Ile
ENST00000589793.1:n.636A>T
NM_173628.3:c.1424A>T	NP_775899.3:p.Lys475Ile
XM_011525416.1:c.1424A>T	XP_011523718.1:p.Lys475Ile
XM_011525417.1:c.1424A>T	XP_011523719.1:p.Lys475Ile
XR_934583.1:n.1585A>T
XM_011525416.2:c.1424A>T	XP_011523718.1:p.Lys475Ile
XM_024451013.1:c.1424A>T	XP_024306781.1:p.Lys475Ile
XM_024451014.1:c.1424A>T	XP_024306782.1:p.Lys475Ile
XR_002958080.1:n.1587A>T
XR_002958081.1:n.1591A>T
NM_173628.4:c.1424A>T MANE Select	NP_775899.3:p.Lys475Ile