Canonical Allele Identifier: CA359218725

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13792110T>A (hg19) ; chr5:g.13792001T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792001T>A , CM000667.2:g.13792001T>A	GRCh38
NC_000005.9:g.13792110T>A , CM000667.1:g.13792110T>A	GRCh37
NC_000005.8:g.13845110T>A	NCBI36
NG_013081.1:g.157480A>T
NG_013081.2:g.157480A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8441A>T MANE Select	ENSP00000265104.4:p.Glu2814Val
ENST00000681290.1:c.8396A>T	ENSP00000505288.1:p.Glu2799Val
ENST00000265104.4:c.8441A>T	ENSP00000265104.4:p.Glu2814Val
NM_001369.2:c.8441A>T	NP_001360.1:p.Glu2814Val
XM_005248262.2:c.8396A>T	XP_005248319.1:p.Glu2799Val
XM_011513990.1:c.8441A>T	XP_011512292.1:p.Glu2814Val
XR_925598.1:n.8648A>T
XM_005248262.3:c.8549A>T	XP_005248319.2:p.Glu2850Val
XM_017009177.1:c.8549A>T	XP_016864666.1:p.Glu2850Val
XM_017009178.1:c.7454A>T	XP_016864667.1:p.Glu2485Val
XM_017009179.2:c.7454A>T	XP_016864668.1:p.Glu2485Val
XM_017009180.1:c.8549A>T	XP_016864669.1:p.Glu2850Val
XM_017009181.1:c.8549A>T	XP_016864670.1:p.Glu2850Val
XM_017009182.1:c.8549A>T	XP_016864671.1:p.Glu2850Val
XM_017009183.1:c.8549A>T	XP_016864672.1:p.Glu2850Val
XM_017009184.1:c.8549A>T	XP_016864673.1:p.Glu2850Val
XM_017009185.1:c.3638A>T	XP_016864674.1:p.Glu1213Val
XM_017009186.1:c.3191A>T	XP_016864675.1:p.Glu1064Val
XM_017009188.1:c.2528A>T	XP_016864677.1:p.Glu843Val
XM_024454388.1:c.7454A>T	XP_024310156.1:p.Glu2485Val
XM_024454389.1:c.7043A>T	XP_024310157.1:p.Glu2348Val
XR_001742034.1:n.8566A>T
XR_001742035.1:n.8566A>T
NM_001369.3:c.8441A>T MANE Select	NP_001360.1:p.Glu2814Val