Canonical Allele Identifier: CA3202062

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13751251C>A , CM000667.2:g.13751251C>A	GRCh38
NC_000005.9:g.13751360C>A , CM000667.1:g.13751360C>A	GRCh37
NC_000005.8:g.13804360C>A	NCBI36
NG_013081.1:g.198230G>T
NG_013081.2:g.198230G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11038G>T MANE Select	NP_001360.1:p.Gly3680Cys
ENST00000265104.5:c.11038G>T MANE Select	ENSP00000265104.4:p.Gly3680Cys
NM_001369.2:c.11038G>T	NP_001360.1:p.Gly3680Cys
ENST00000265104.4:c.11038G>T	ENSP00000265104.4:p.Gly3680Cys
ENST00000681290.1:c.10993G>T	ENSP00000505288.1:p.Gly3665Cys
XM_005248262.2:c.10993G>T	XP_005248319.1:p.Gly3665Cys
XM_005248262.3:c.11146G>T	XP_005248319.2:p.Gly3716Cys
XM_017009177.1:c.11146G>T	XP_016864666.1:p.Gly3716Cys
XM_017009178.1:c.10051G>T	XP_016864667.1:p.Gly3351Cys
XM_017009179.2:c.10051G>T	XP_016864668.1:p.Gly3351Cys
XM_017009180.1:c.11146G>T	XP_016864669.1:p.Gly3716Cys
XM_017009181.1:c.11146G>T	XP_016864670.1:p.Gly3716Cys
XM_017009182.1:c.11146G>T	XP_016864671.1:p.Gly3716Cys
XM_017009185.1:c.6235G>T	XP_016864674.1:p.Gly2079Cys
XM_017009186.1:c.5788G>T	XP_016864675.1:p.Gly1930Cys
XM_017009188.1:c.5125G>T	XP_016864677.1:p.Gly1709Cys
XM_024454388.1:c.10051G>T	XP_024310156.1:p.Gly3351Cys
XM_024454389.1:c.9640G>T	XP_024310157.1:p.Gly3214Cys