Canonical Allele Identifier: CA3205308

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13944393G>A , CM000667.2:g.13944393G>A	GRCh38
NC_000005.9:g.13944502G>A , CM000667.1:g.13944502G>A	GRCh37
NC_000005.8:g.13997502G>A	NCBI36
NG_013081.1:g.5088C>T
NG_013081.2:g.5088C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.46C>T MANE Select	NP_001360.1:p.Arg16Ter
ENST00000265104.5:c.46C>T MANE Select	ENSP00000265104.4:p.Arg16Ter
NM_001369.2:c.46C>T	NP_001360.1:p.Arg16Ter
ENST00000265104.4:c.46C>T	ENSP00000265104.4:p.Arg16Ter
ENST00000681290.1:c.13-13149C>T	ENSP00000505288.1:n.13-13149C>T
XM_005248262.2:c.13-13149C>T	XP_005248319.1:n.13-13149C>T
XM_005248262.3:c.166-13149C>T	XP_005248319.2:n.166-13149C>T
XM_011513990.1:c.46C>T	XP_011512292.1:p.Arg16Ter
XM_017009177.1:c.166-13149C>T	XP_016864666.1:n.166-13149C>T
XM_017009178.1:c.-980+5024C>T	XP_016864667.1:n.-980+5024C>T
XM_017009180.1:c.166-13149C>T	XP_016864669.1:n.166-13149C>T
XM_017009181.1:c.166-13149C>T	XP_016864670.1:n.166-13149C>T
XM_017009182.1:c.166-13149C>T	XP_016864671.1:n.166-13149C>T
XM_017009183.1:c.166-13149C>T	XP_016864672.1:n.166-13149C>T
XM_017009184.1:c.166-13149C>T	XP_016864673.1:n.166-13149C>T
XM_017009187.1:c.166-13149C>T	XP_016864676.1:n.166-13149C>T
XM_024454388.1:c.-2850+5024C>T	XP_024310156.1:n.-2850+5024C>T
XM_024454389.1:c.-1903+5024C>T	XP_024310157.1:n.-1903+5024C>T
XR_001742034.1:n.183-13149C>T
XR_001742035.1:n.183-13149C>T
XR_925598.1:n.253C>T