Canonical Allele Identifier: CA3201302

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13700772C>T , CM000667.2:g.13700772C>T	GRCh38
NC_000005.9:g.13700881C>T , CM000667.1:g.13700881C>T	GRCh37
NC_000005.8:g.13753881C>T	NCBI36
NG_013081.1:g.248709G>A
NG_013081.2:g.248709G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13591G>A MANE Select	NP_001360.1:p.Glu4531Lys
ENST00000265104.5:c.13591G>A MANE Select	ENSP00000265104.4:p.Glu4531Lys
NM_001369.2:c.13591G>A	NP_001360.1:p.Glu4531Lys
ENST00000265104.4:c.13591G>A	ENSP00000265104.4:p.Glu4531Lys
ENST00000681290.1:c.13546G>A	ENSP00000505288.1:p.Glu4516Lys
ENST00000683611.1:n.924G>A
XM_005248262.2:c.13546G>A	XP_005248319.1:p.Glu4516Lys
XM_005248262.3:c.13699G>A	XP_005248319.2:p.Glu4567Lys
XM_017009177.1:c.13279G>A	XP_016864666.1:p.Glu4427Lys
XM_017009178.1:c.12604G>A	XP_016864667.1:p.Glu4202Lys
XM_017009179.2:c.12604G>A	XP_016864668.1:p.Glu4202Lys
XM_017009185.1:c.8788G>A	XP_016864674.1:p.Glu2930Lys
XM_017009186.1:c.8341G>A	XP_016864675.1:p.Glu2781Lys
XM_017009188.1:c.7678G>A	XP_016864677.1:p.Glu2560Lys
XM_024454388.1:c.12604G>A	XP_024310156.1:p.Glu4202Lys
XM_024454389.1:c.12193G>A	XP_024310157.1:p.Glu4065Lys