Canonical Allele Identifier: CA359218363

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13727633C>T , CM000667.2:g.13727633C>T	GRCh38
NC_000005.9:g.13727742C>T , CM000667.1:g.13727742C>T	GRCh37
NC_000005.8:g.13780742C>T	NCBI36
NG_013081.1:g.221848G>A
NG_013081.2:g.221848G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11907G>A MANE Select	NP_001360.1:p.Trp3969Ter
ENST00000265104.5:c.11907G>A MANE Select	ENSP00000265104.4:p.Trp3969Ter
NM_001369.2:c.11907G>A	NP_001360.1:p.Trp3969Ter
ENST00000265104.4:c.11907G>A	ENSP00000265104.4:p.Trp3969Ter
ENST00000681290.1:c.11862G>A	ENSP00000505288.1:p.Trp3954Ter
XM_005248262.2:c.11862G>A	XP_005248319.1:p.Trp3954Ter
XM_005248262.3:c.12015G>A	XP_005248319.2:p.Trp4005Ter
XM_017009177.1:c.12015G>A	XP_016864666.1:p.Trp4005Ter
XM_017009178.1:c.10920G>A	XP_016864667.1:p.Trp3640Ter
XM_017009179.2:c.10920G>A	XP_016864668.1:p.Trp3640Ter
XM_017009180.1:c.12015G>A	XP_016864669.1:p.Trp4005Ter
XM_017009181.1:c.*10G>A	XP_016864670.1:n.*10G>A
XM_017009185.1:c.7104G>A	XP_016864674.1:p.Trp2368Ter
XM_017009186.1:c.6657G>A	XP_016864675.1:p.Trp2219Ter
XM_017009188.1:c.5994G>A	XP_016864677.1:p.Trp1998Ter
XM_024454388.1:c.10920G>A	XP_024310156.1:p.Trp3640Ter
XM_024454389.1:c.10509G>A	XP_024310157.1:p.Trp3503Ter