Canonical Allele Identifier: CA3201828

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13729496T>C , CM000667.2:g.13729496T>C	GRCh38
NC_000005.9:g.13729605T>C , CM000667.1:g.13729605T>C	GRCh37
NC_000005.8:g.13782605T>C	NCBI36
NG_013081.1:g.219985A>G
NG_013081.2:g.219985A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11826A>G MANE Select	NP_001360.1:p.Thr3942=
ENST00000265104.5:c.11826A>G MANE Select	ENSP00000265104.4:p.Thr3942=
NM_001369.2:c.11826A>G	NP_001360.1:p.Thr3942=
ENST00000265104.4:c.11826A>G	ENSP00000265104.4:p.Thr3942=
ENST00000681290.1:c.11781A>G	ENSP00000505288.1:p.Thr3927=
XM_005248262.2:c.11781A>G	XP_005248319.1:p.Thr3927=
XM_005248262.3:c.11934A>G	XP_005248319.2:p.Thr3978=
XM_017009177.1:c.11934A>G	XP_016864666.1:p.Thr3978=
XM_017009178.1:c.10839A>G	XP_016864667.1:p.Thr3613=
XM_017009179.2:c.10839A>G	XP_016864668.1:p.Thr3613=
XM_017009180.1:c.11934A>G	XP_016864669.1:p.Thr3978=
XM_017009181.1:c.11870-1840A>G	XP_016864670.1:n.11870-1840A>G
XM_017009185.1:c.7023A>G	XP_016864674.1:p.Thr2341=
XM_017009186.1:c.6576A>G	XP_016864675.1:p.Thr2192=
XM_017009188.1:c.5913A>G	XP_016864677.1:p.Thr1971=
XM_024454388.1:c.10839A>G	XP_024310156.1:p.Thr3613=
XM_024454389.1:c.10428A>G	XP_024310157.1:p.Thr3476=