Canonical Allele Identifier: CA3201890

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735275C>T , CM000667.2:g.13735275C>T	GRCh38
NC_000005.9:g.13735384C>T , CM000667.1:g.13735384C>T	GRCh37
NC_000005.8:g.13788384C>T	NCBI36
NG_013081.1:g.214206G>A
NG_013081.2:g.214206G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11617G>A MANE Select	NP_001360.1:p.Glu3873Lys
ENST00000265104.5:c.11617G>A MANE Select	ENSP00000265104.4:p.Glu3873Lys
NM_001369.2:c.11617G>A	NP_001360.1:p.Glu3873Lys
ENST00000265104.4:c.11617G>A	ENSP00000265104.4:p.Glu3873Lys
ENST00000681290.1:c.11572G>A	ENSP00000505288.1:p.Glu3858Lys
XM_005248262.2:c.11572G>A	XP_005248319.1:p.Glu3858Lys
XM_005248262.3:c.11725G>A	XP_005248319.2:p.Glu3909Lys
XM_017009177.1:c.11725G>A	XP_016864666.1:p.Glu3909Lys
XM_017009178.1:c.10630G>A	XP_016864667.1:p.Glu3544Lys
XM_017009179.2:c.10630G>A	XP_016864668.1:p.Glu3544Lys
XM_017009180.1:c.11725G>A	XP_016864669.1:p.Glu3909Lys
XM_017009181.1:c.11725G>A	XP_016864670.1:p.Glu3909Lys
XM_017009182.1:c.*51G>A	XP_016864671.1:n.*51G>A
XM_017009185.1:c.6814G>A	XP_016864674.1:p.Glu2272Lys
XM_017009186.1:c.6367G>A	XP_016864675.1:p.Glu2123Lys
XM_017009188.1:c.5704G>A	XP_016864677.1:p.Glu1902Lys
XM_024454388.1:c.10630G>A	XP_024310156.1:p.Glu3544Lys
XM_024454389.1:c.10219G>A	XP_024310157.1:p.Glu3407Lys