Canonical Allele Identifier: CA3203283

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13820408G>A , CM000667.2:g.13820408G>A	GRCh38
NC_000005.9:g.13820517G>A , CM000667.1:g.13820517G>A	GRCh37
NC_000005.8:g.13873517G>A	NCBI36
NG_013081.1:g.129073C>T
NG_013081.2:g.129073C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6779C>T MANE Select	NP_001360.1:p.Thr2260Ile
ENST00000265104.5:c.6779C>T MANE Select	ENSP00000265104.4:p.Thr2260Ile
NM_001369.2:c.6779C>T	NP_001360.1:p.Thr2260Ile
ENST00000265104.4:c.6779C>T	ENSP00000265104.4:p.Thr2260Ile
ENST00000681290.1:c.6734C>T	ENSP00000505288.1:p.Thr2245Ile
ENST00000683090.1:n.1710C>T
XM_005248262.2:c.6734C>T	XP_005248319.1:p.Thr2245Ile
XM_005248262.3:c.6887C>T	XP_005248319.2:p.Thr2296Ile
XM_011513990.1:c.6779C>T	XP_011512292.1:p.Thr2260Ile
XM_017009177.1:c.6887C>T	XP_016864666.1:p.Thr2296Ile
XM_017009178.1:c.5792C>T	XP_016864667.1:p.Thr1931Ile
XM_017009179.2:c.5792C>T	XP_016864668.1:p.Thr1931Ile
XM_017009180.1:c.6887C>T	XP_016864669.1:p.Thr2296Ile
XM_017009181.1:c.6887C>T	XP_016864670.1:p.Thr2296Ile
XM_017009182.1:c.6887C>T	XP_016864671.1:p.Thr2296Ile
XM_017009183.1:c.6887C>T	XP_016864672.1:p.Thr2296Ile
XM_017009184.1:c.6887C>T	XP_016864673.1:p.Thr2296Ile
XM_017009185.1:c.1976C>T	XP_016864674.1:p.Thr659Ile
XM_017009186.1:c.1529C>T	XP_016864675.1:p.Thr510Ile
XM_017009187.1:c.6887C>T	XP_016864676.1:p.Thr2296Ile
XM_017009188.1:c.866C>T	XP_016864677.1:p.Thr289Ile
XM_024454388.1:c.5792C>T	XP_024310156.1:p.Thr1931Ile
XM_024454389.1:c.5381C>T	XP_024310157.1:p.Thr1794Ile
XR_001742034.1:n.6904C>T
XR_001742035.1:n.6904C>T
XR_925598.1:n.6986C>T