Canonical Allele Identifier: CA443258307

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13845084T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844975T>A , CM000667.2:g.13844975T>A	GRCh38
NC_000005.9:g.13845084T>A , CM000667.1:g.13845084T>A	GRCh37
NC_000005.8:g.13898084T>A	NCBI36
NG_013081.1:g.104506A>T
NG_013081.2:g.104506A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5133A>T MANE Select	ENSP00000265104.4:p.Arg1711=
ENST00000681290.1:c.5088A>T	ENSP00000505288.1:p.Arg1696=
ENST00000265104.4:c.5133A>T	ENSP00000265104.4:p.Arg1711=
NM_001369.2:c.5133A>T	NP_001360.1:p.Arg1711=
XM_005248262.2:c.5088A>T	XP_005248319.1:p.Arg1696=
XM_011513990.1:c.5133A>T	XP_011512292.1:p.Arg1711=
XR_925598.1:n.5340A>T
XM_005248262.3:c.5241A>T	XP_005248319.2:p.Arg1747=
XM_017009177.1:c.5241A>T	XP_016864666.1:p.Arg1747=
XM_017009178.1:c.4146A>T	XP_016864667.1:p.Arg1382=
XM_017009179.2:c.4146A>T	XP_016864668.1:p.Arg1382=
XM_017009180.1:c.5241A>T	XP_016864669.1:p.Arg1747=
XM_017009181.1:c.5241A>T	XP_016864670.1:p.Arg1747=
XM_017009182.1:c.5241A>T	XP_016864671.1:p.Arg1747=
XM_017009183.1:c.5241A>T	XP_016864672.1:p.Arg1747=
XM_017009184.1:c.5241A>T	XP_016864673.1:p.Arg1747=
XM_017009185.1:c.330A>T	XP_016864674.1:p.Arg110=
XM_017009186.1:c.22-3071A>T	XP_016864675.1:n.22-3071A>T
XM_017009187.1:c.5241A>T	XP_016864676.1:p.Arg1747=
XM_024454388.1:c.4146A>T	XP_024310156.1:p.Arg1382=
XM_024454389.1:c.3735A>T	XP_024310157.1:p.Arg1245=
XR_001742034.1:n.5258A>T
XR_001742035.1:n.5258A>T
NM_001369.3:c.5133A>T MANE Select	NP_001360.1:p.Arg1711=