Canonical Allele Identifier: CA3201737

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721174C>T , CM000667.2:g.13721174C>T	GRCh38
NC_000005.9:g.13721283C>T , CM000667.1:g.13721283C>T	GRCh37
NC_000005.8:g.13774283C>T	NCBI36
NG_013081.1:g.228307G>A
NG_013081.2:g.228307G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12105G>A MANE Select	NP_001360.1:p.Thr4035=
ENST00000265104.5:c.12105G>A MANE Select	ENSP00000265104.4:p.Thr4035=
NM_001369.2:c.12105G>A	NP_001360.1:p.Thr4035=
ENST00000265104.4:c.12105G>A	ENSP00000265104.4:p.Thr4035=
ENST00000681290.1:c.12060G>A	ENSP00000505288.1:p.Thr4020=
XM_005248262.2:c.12060G>A	XP_005248319.1:p.Thr4020=
XM_005248262.3:c.12213G>A	XP_005248319.2:p.Thr4071=
XM_017009177.1:c.12213G>A	XP_016864666.1:p.Thr4071=
XM_017009178.1:c.11118G>A	XP_016864667.1:p.Thr3706=
XM_017009179.2:c.11118G>A	XP_016864668.1:p.Thr3706=
XM_017009180.1:c.12213G>A	XP_016864669.1:p.Thr4071=
XM_017009185.1:c.7302G>A	XP_016864674.1:p.Thr2434=
XM_017009186.1:c.6855G>A	XP_016864675.1:p.Thr2285=
XM_017009188.1:c.6192G>A	XP_016864677.1:p.Thr2064=
XM_024454388.1:c.11118G>A	XP_024310156.1:p.Thr3706=
XM_024454389.1:c.10707G>A	XP_024310157.1:p.Thr3569=