Canonical Allele Identifier: CA401286791

Gene: DNAH17

Linked Data

• MyVariant Identifiers: chr17:g.76563119C>T (hg19) ; chr17:g.78567037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78567037C>T , CM000679.2:g.78567037C>T	GRCh38
NC_000017.10:g.76563119C>T , CM000679.1:g.76563119C>T	GRCh37
NC_000017.9:g.74074714C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389840.7:c.1414G>A MANE Select	ENSP00000374490.6:p.Ala472Thr
ENST00000389840.6:c.1414G>A	ENSP00000374490.6:p.Ala472Thr
ENST00000585328.5:c.1414G>A	ENSP00000465516.1:p.Ala472Thr
ENST00000589793.1:n.626G>A
NM_173628.3:c.1414G>A	NP_775899.3:p.Ala472Thr
XM_011525416.1:c.1414G>A	XP_011523718.1:p.Ala472Thr
XM_011525417.1:c.1414G>A	XP_011523719.1:p.Ala472Thr
XR_934583.1:n.1575G>A
XM_011525416.2:c.1414G>A	XP_011523718.1:p.Ala472Thr
XM_024451013.1:c.1414G>A	XP_024306781.1:p.Ala472Thr
XM_024451014.1:c.1414G>A	XP_024306782.1:p.Ala472Thr
XR_002958080.1:n.1577G>A
XR_002958081.1:n.1581G>A
NM_173628.4:c.1414G>A MANE Select	NP_775899.3:p.Ala472Thr