Canonical Allele Identifier: CA443275755

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13916538T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13916429T>A , CM000667.2:g.13916429T>A	GRCh38
NC_000005.9:g.13916538T>A , CM000667.1:g.13916538T>A	GRCh37
NC_000005.8:g.13969538T>A	NCBI36
NG_013081.1:g.33052A>T
NG_013081.2:g.33052A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.1172A>T
ENST00000682376.1:n.3079A>T
ENST00000683011.1:n.1055A>T
ENST00000683967.1:n.1215A>T
ENST00000684013.1:n.1215A>T
ENST00000684099.1:n.1211A>T
ENST00000265104.5:c.1116A>T MANE Select	ENSP00000265104.4:p.Thr372=
ENST00000680213.1:c.876A>T	ENSP00000506622.1:p.Thr292=
ENST00000681290.1:c.1071A>T	ENSP00000505288.1:p.Thr357=
ENST00000265104.4:c.1116A>T	ENSP00000265104.4:p.Thr372=
ENST00000508040.1:n.1524A>T
NM_001369.2:c.1116A>T	NP_001360.1:p.Thr372=
XM_005248262.2:c.1071A>T	XP_005248319.1:p.Thr357=
XM_011513990.1:c.1116A>T	XP_011512292.1:p.Thr372=
XR_925598.1:n.1323A>T
XM_005248262.3:c.1224A>T	XP_005248319.2:p.Thr408=
XM_017009177.1:c.1224A>T	XP_016864666.1:p.Thr408=
XM_017009178.1:c.129A>T	XP_016864667.1:p.Thr43=
XM_017009179.2:c.129A>T	XP_016864668.1:p.Thr43=
XM_017009180.1:c.1224A>T	XP_016864669.1:p.Thr408=
XM_017009181.1:c.1224A>T	XP_016864670.1:p.Thr408=
XM_017009182.1:c.1224A>T	XP_016864671.1:p.Thr408=
XM_017009183.1:c.1224A>T	XP_016864672.1:p.Thr408=
XM_017009184.1:c.1224A>T	XP_016864673.1:p.Thr408=
XM_017009187.1:c.1224A>T	XP_016864676.1:p.Thr408=
XM_024454388.1:c.129A>T	XP_024310156.1:p.Thr43=
XM_024454389.1:c.-844A>T	XP_024310157.1:n.-844A>T
XR_001742034.1:n.1241A>T
XR_001742035.1:n.1241A>T
NM_001369.3:c.1116A>T MANE Select	NP_001360.1:p.Thr372=