Canonical Allele Identifier: CA359232191

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13871051T>A (hg19) ; chr5:g.13870942T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870942T>A , CM000667.2:g.13870942T>A	GRCh38
NC_000005.9:g.13871051T>A , CM000667.1:g.13871051T>A	GRCh37
NC_000005.8:g.13924051T>A	NCBI36
NG_013081.1:g.78539A>T
NG_013081.2:g.78539A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3659A>T MANE Select	ENSP00000265104.4:p.His1220Leu
ENST00000681290.1:c.3614A>T	ENSP00000505288.1:p.His1205Leu
ENST00000265104.4:c.3659A>T	ENSP00000265104.4:p.His1220Leu
NM_001369.2:c.3659A>T	NP_001360.1:p.His1220Leu
XM_005248262.2:c.3614A>T	XP_005248319.1:p.His1205Leu
XM_011513990.1:c.3659A>T	XP_011512292.1:p.His1220Leu
XR_925598.1:n.3866A>T
XM_005248262.3:c.3767A>T	XP_005248319.2:p.His1256Leu
XM_017009177.1:c.3767A>T	XP_016864666.1:p.His1256Leu
XM_017009178.1:c.2672A>T	XP_016864667.1:p.His891Leu
XM_017009179.2:c.2672A>T	XP_016864668.1:p.His891Leu
XM_017009180.1:c.3767A>T	XP_016864669.1:p.His1256Leu
XM_017009181.1:c.3767A>T	XP_016864670.1:p.His1256Leu
XM_017009182.1:c.3767A>T	XP_016864671.1:p.His1256Leu
XM_017009183.1:c.3767A>T	XP_016864672.1:p.His1256Leu
XM_017009184.1:c.3767A>T	XP_016864673.1:p.His1256Leu
XM_017009187.1:c.3767A>T	XP_016864676.1:p.His1256Leu
XM_024454388.1:c.2672A>T	XP_024310156.1:p.His891Leu
XM_024454389.1:c.2261A>T	XP_024310157.1:p.His754Leu
XR_001742034.1:n.3784A>T
XR_001742035.1:n.3784A>T
NM_001369.3:c.3659A>T MANE Select	NP_001360.1:p.His1220Leu