Canonical Allele Identifier: CA359193774

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701429C>T , CM000667.2:g.13701429C>T	GRCh38
NC_000005.9:g.13701538C>T , CM000667.1:g.13701538C>T	GRCh37
NC_000005.8:g.13754538C>T	NCBI36
NG_013081.1:g.248052G>A
NG_013081.2:g.248052G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13346G>A MANE Select	NP_001360.1:p.Trp4449Ter
ENST00000265104.5:c.13346G>A MANE Select	ENSP00000265104.4:p.Trp4449Ter
NM_001369.2:c.13346G>A	NP_001360.1:p.Trp4449Ter
ENST00000265104.4:c.13346G>A	ENSP00000265104.4:p.Trp4449Ter
ENST00000681290.1:c.13301G>A	ENSP00000505288.1:p.Trp4434Ter
ENST00000683611.1:n.679G>A
XM_005248262.2:c.13301G>A	XP_005248319.1:p.Trp4434Ter
XM_005248262.3:c.13454G>A	XP_005248319.2:p.Trp4485Ter
XM_017009177.1:c.13034G>A	XP_016864666.1:p.Trp4345Ter
XM_017009178.1:c.12359G>A	XP_016864667.1:p.Trp4120Ter
XM_017009179.2:c.12359G>A	XP_016864668.1:p.Trp4120Ter
XM_017009185.1:c.8543G>A	XP_016864674.1:p.Trp2848Ter
XM_017009186.1:c.8096G>A	XP_016864675.1:p.Trp2699Ter
XM_017009188.1:c.7433G>A	XP_016864677.1:p.Trp2478Ter
XM_024454388.1:c.12359G>A	XP_024310156.1:p.Trp4120Ter
XM_024454389.1:c.11948G>A	XP_024310157.1:p.Trp3983Ter