Canonical Allele Identifier: CA182949

Gene: DNAH5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913923C>T , CM000667.2:g.13913923C>T	GRCh38
NC_000005.9:g.13914032C>T , CM000667.1:g.13914032C>T	GRCh37
NC_000005.8:g.13967032C>T	NCBI36
NG_013081.1:g.35558G>A
NG_013081.2:g.35558G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1412G>A
ENST00000682376.1:n.5585G>A
ENST00000683011.1:n.1295G>A
ENST00000683967.1:n.3721G>A
ENST00000684013.1:n.2016G>A
ENST00000684099.1:n.2012G>A
ENST00000265104.5:c.1356G>A MANE Select	ENSP00000265104.4:p.Lys452=
ENST00000680213.1:c.1116G>A	ENSP00000506622.1:p.Lys372=
ENST00000681290.1:c.1311G>A	ENSP00000505288.1:p.Lys437=
ENST00000265104.4:c.1356G>A	ENSP00000265104.4:p.Lys452=
ENST00000508040.1:n.1764G>A
NM_001369.2:c.1356G>A	NP_001360.1:p.Lys452=
XM_005248262.2:c.1311G>A	XP_005248319.1:p.Lys437=
XM_011513990.1:c.1356G>A	XP_011512292.1:p.Lys452=
XR_925598.1:n.1563G>A
XM_005248262.3:c.1464G>A	XP_005248319.2:p.Lys488=
XM_017009177.1:c.1464G>A	XP_016864666.1:p.Lys488=
XM_017009178.1:c.369G>A	XP_016864667.1:p.Lys123=
XM_017009179.2:c.369G>A	XP_016864668.1:p.Lys123=
XM_017009180.1:c.1464G>A	XP_016864669.1:p.Lys488=
XM_017009181.1:c.1464G>A	XP_016864670.1:p.Lys488=
XM_017009182.1:c.1464G>A	XP_016864671.1:p.Lys488=
XM_017009183.1:c.1464G>A	XP_016864672.1:p.Lys488=
XM_017009184.1:c.1464G>A	XP_016864673.1:p.Lys488=
XM_017009187.1:c.1464G>A	XP_016864676.1:p.Lys488=
XM_024454388.1:c.369G>A	XP_024310156.1:p.Lys123=
XM_024454389.1:c.-43G>A	XP_024310157.1:n.-43G>A
XR_001742034.1:n.1481G>A
XR_001742035.1:n.1481G>A
NM_001369.3:c.1356G>A MANE Select	NP_001360.1:p.Lys452=