Canonical Allele Identifier: CA3203525

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830732C>A , CM000667.2:g.13830732C>A	GRCh38
NC_000005.9:g.13830841C>A , CM000667.1:g.13830841C>A	GRCh37
NC_000005.8:g.13883841C>A	NCBI36
NG_013081.1:g.118749G>T
NG_013081.2:g.118749G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.5926G>T MANE Select	NP_001360.1:p.Gly1976Ter
ENST00000265104.5:c.5926G>T MANE Select	ENSP00000265104.4:p.Gly1976Ter
NM_001369.2:c.5926G>T	NP_001360.1:p.Gly1976Ter
ENST00000265104.4:c.5926G>T	ENSP00000265104.4:p.Gly1976Ter
ENST00000681290.1:c.5881G>T	ENSP00000505288.1:p.Gly1961Ter
ENST00000683090.1:n.857G>T
XM_005248262.2:c.5881G>T	XP_005248319.1:p.Gly1961Ter
XM_005248262.3:c.6034G>T	XP_005248319.2:p.Gly2012Ter
XM_011513990.1:c.5926G>T	XP_011512292.1:p.Gly1976Ter
XM_017009177.1:c.6034G>T	XP_016864666.1:p.Gly2012Ter
XM_017009178.1:c.4939G>T	XP_016864667.1:p.Gly1647Ter
XM_017009179.2:c.4939G>T	XP_016864668.1:p.Gly1647Ter
XM_017009180.1:c.6034G>T	XP_016864669.1:p.Gly2012Ter
XM_017009181.1:c.6034G>T	XP_016864670.1:p.Gly2012Ter
XM_017009182.1:c.6034G>T	XP_016864671.1:p.Gly2012Ter
XM_017009183.1:c.6034G>T	XP_016864672.1:p.Gly2012Ter
XM_017009184.1:c.6034G>T	XP_016864673.1:p.Gly2012Ter
XM_017009185.1:c.1123G>T	XP_016864674.1:p.Gly375Ter
XM_017009186.1:c.676G>T	XP_016864675.1:p.Gly226Ter
XM_017009187.1:c.6034G>T	XP_016864676.1:p.Gly2012Ter
XM_017009188.1:c.13G>T	XP_016864677.1:p.Gly5Ter
XM_024454388.1:c.4939G>T	XP_024310156.1:p.Gly1647Ter
XM_024454389.1:c.4528G>T	XP_024310157.1:p.Gly1510Ter
XR_001742034.1:n.6051G>T
XR_001742035.1:n.6051G>T
XR_925598.1:n.6133G>T