Canonical Allele Identifier: CA113957613

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913745G>A , CM000667.2:g.13913745G>A	GRCh38
NC_000005.9:g.13913854G>A , CM000667.1:g.13913854G>A	GRCh37
NC_000005.8:g.13966854G>A	NCBI36
NG_013081.1:g.35736C>T
NG_013081.2:g.35736C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1534C>T MANE Select	NP_001360.1:p.Gln512Ter
ENST00000265104.5:c.1534C>T MANE Select	ENSP00000265104.4:p.Gln512Ter
NM_001369.2:c.1534C>T	NP_001360.1:p.Gln512Ter
ENST00000265104.4:c.1534C>T	ENSP00000265104.4:p.Gln512Ter
ENST00000508040.1:n.1942C>T
ENST00000680213.1:c.1294C>T	ENSP00000506622.1:p.Gln432Ter
ENST00000680213.2:n.1590C>T
ENST00000681290.1:c.1489C>T	ENSP00000505288.1:p.Gln497Ter
ENST00000682376.1:n.5763C>T
ENST00000683011.1:n.1473C>T
ENST00000683967.1:n.3899C>T
ENST00000684013.1:n.2194C>T
ENST00000684099.1:n.2190C>T
XM_005248262.2:c.1489C>T	XP_005248319.1:p.Gln497Ter
XM_005248262.3:c.1642C>T	XP_005248319.2:p.Gln548Ter
XM_011513990.1:c.1534C>T	XP_011512292.1:p.Gln512Ter
XM_017009177.1:c.1642C>T	XP_016864666.1:p.Gln548Ter
XM_017009178.1:c.547C>T	XP_016864667.1:p.Gln183Ter
XM_017009179.2:c.547C>T	XP_016864668.1:p.Gln183Ter
XM_017009180.1:c.1642C>T	XP_016864669.1:p.Gln548Ter
XM_017009181.1:c.1642C>T	XP_016864670.1:p.Gln548Ter
XM_017009182.1:c.1642C>T	XP_016864671.1:p.Gln548Ter
XM_017009183.1:c.1642C>T	XP_016864672.1:p.Gln548Ter
XM_017009184.1:c.1642C>T	XP_016864673.1:p.Gln548Ter
XM_017009187.1:c.1642C>T	XP_016864676.1:p.Gln548Ter
XM_024454388.1:c.547C>T	XP_024310156.1:p.Gln183Ter
XM_024454389.1:c.136C>T	XP_024310157.1:p.Gln46Ter
XR_001742034.1:n.1659C>T
XR_001742035.1:n.1659C>T
XR_925598.1:n.1741C>T