Canonical Allele Identifier: CA3205205

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13923360C>T , CM000667.2:g.13923360C>T	GRCh38
NC_000005.9:g.13923469C>T , CM000667.1:g.13923469C>T	GRCh37
NC_000005.8:g.13976469C>T	NCBI36
NG_013081.1:g.26121G>A
NG_013081.2:g.26121G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.358G>A MANE Select	NP_001360.1:p.Asp120Asn
ENST00000265104.5:c.358G>A MANE Select	ENSP00000265104.4:p.Asp120Asn
NM_001369.2:c.358G>A	NP_001360.1:p.Asp120Asn
ENST00000265104.4:c.358G>A	ENSP00000265104.4:p.Asp120Asn
ENST00000508040.1:n.717G>A
ENST00000680213.1:c.118G>A	ENSP00000506622.1:p.Asp40Asn
ENST00000680213.2:n.414G>A
ENST00000681290.1:c.313G>A	ENSP00000505288.1:p.Asp105Asn
ENST00000682376.1:n.402G>A
ENST00000682586.1:n.402G>A
ENST00000683011.1:n.335-38G>A
ENST00000683967.1:n.408G>A
ENST00000684013.1:n.408G>A
ENST00000684099.1:n.453G>A
XM_005248262.2:c.313G>A	XP_005248319.1:p.Asp105Asn
XM_005248262.3:c.466G>A	XP_005248319.2:p.Asp156Asn
XM_011513990.1:c.358G>A	XP_011512292.1:p.Asp120Asn
XM_017009177.1:c.466G>A	XP_016864666.1:p.Asp156Asn
XM_017009178.1:c.-679G>A	XP_016864667.1:n.-679G>A
XM_017009180.1:c.466G>A	XP_016864669.1:p.Asp156Asn
XM_017009181.1:c.466G>A	XP_016864670.1:p.Asp156Asn
XM_017009182.1:c.466G>A	XP_016864671.1:p.Asp156Asn
XM_017009183.1:c.466G>A	XP_016864672.1:p.Asp156Asn
XM_017009184.1:c.466G>A	XP_016864673.1:p.Asp156Asn
XM_017009187.1:c.466G>A	XP_016864676.1:p.Asp156Asn
XM_024454388.1:c.-2549G>A	XP_024310156.1:n.-2549G>A
XM_024454389.1:c.-1602G>A	XP_024310157.1:n.-1602G>A
XR_001742034.1:n.483G>A
XR_001742035.1:n.483G>A
XR_925598.1:n.565G>A