Canonical Allele Identifier: CA359232202

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13810199C>T , CM000667.2:g.13810199C>T	GRCh38
NC_000005.9:g.13810308C>T , CM000667.1:g.13810308C>T	GRCh37
NC_000005.8:g.13863308C>T	NCBI36
NG_013081.1:g.139282G>A
NG_013081.2:g.139282G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.7469G>A MANE Select	NP_001360.1:p.Trp2490Ter
ENST00000265104.5:c.7469G>A MANE Select	ENSP00000265104.4:p.Trp2490Ter
NM_001369.2:c.7469G>A	NP_001360.1:p.Trp2490Ter
ENST00000265104.4:c.7469G>A	ENSP00000265104.4:p.Trp2490Ter
ENST00000512443.1:n.325G>A
ENST00000681290.1:c.7424G>A	ENSP00000505288.1:p.Trp2475Ter
XM_005248262.2:c.7424G>A	XP_005248319.1:p.Trp2475Ter
XM_005248262.3:c.7577G>A	XP_005248319.2:p.Trp2526Ter
XM_011513990.1:c.7469G>A	XP_011512292.1:p.Trp2490Ter
XM_017009177.1:c.7577G>A	XP_016864666.1:p.Trp2526Ter
XM_017009178.1:c.6482G>A	XP_016864667.1:p.Trp2161Ter
XM_017009179.2:c.6482G>A	XP_016864668.1:p.Trp2161Ter
XM_017009180.1:c.7577G>A	XP_016864669.1:p.Trp2526Ter
XM_017009181.1:c.7577G>A	XP_016864670.1:p.Trp2526Ter
XM_017009182.1:c.7577G>A	XP_016864671.1:p.Trp2526Ter
XM_017009183.1:c.7577G>A	XP_016864672.1:p.Trp2526Ter
XM_017009184.1:c.7577G>A	XP_016864673.1:p.Trp2526Ter
XM_017009185.1:c.2666G>A	XP_016864674.1:p.Trp889Ter
XM_017009186.1:c.2219G>A	XP_016864675.1:p.Trp740Ter
XM_017009187.1:c.7577G>A	XP_016864676.1:p.Trp2526Ter
XM_017009188.1:c.1556G>A	XP_016864677.1:p.Trp519Ter
XM_024454388.1:c.6482G>A	XP_024310156.1:p.Trp2161Ter
XM_024454389.1:c.6071G>A	XP_024310157.1:p.Trp2024Ter
XR_001742034.1:n.7594G>A
XR_001742035.1:n.7594G>A
XR_925598.1:n.7676G>A