Canonical Allele Identifier: CA3201795

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13727627A>C , CM000667.2:g.13727627A>C	GRCh38
NC_000005.9:g.13727736A>C , CM000667.1:g.13727736A>C	GRCh37
NC_000005.8:g.13780736A>C	NCBI36
NG_013081.1:g.221854T>G
NG_013081.2:g.221854T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11913T>G MANE Select	NP_001360.1:p.Ile3971Met
ENST00000265104.5:c.11913T>G MANE Select	ENSP00000265104.4:p.Ile3971Met
NM_001369.2:c.11913T>G	NP_001360.1:p.Ile3971Met
ENST00000265104.4:c.11913T>G	ENSP00000265104.4:p.Ile3971Met
ENST00000681290.1:c.11868T>G	ENSP00000505288.1:p.Ile3956Met
XM_005248262.2:c.11868T>G	XP_005248319.1:p.Ile3956Met
XM_005248262.3:c.12021T>G	XP_005248319.2:p.Ile4007Met
XM_017009177.1:c.12021T>G	XP_016864666.1:p.Ile4007Met
XM_017009178.1:c.10926T>G	XP_016864667.1:p.Ile3642Met
XM_017009179.2:c.10926T>G	XP_016864668.1:p.Ile3642Met
XM_017009180.1:c.12021T>G	XP_016864669.1:p.Ile4007Met
XM_017009181.1:c.*16T>G	XP_016864670.1:n.*16T>G
XM_017009185.1:c.7110T>G	XP_016864674.1:p.Ile2370Met
XM_017009186.1:c.6663T>G	XP_016864675.1:p.Ile2221Met
XM_017009188.1:c.6000T>G	XP_016864677.1:p.Ile2000Met
XM_024454388.1:c.10926T>G	XP_024310156.1:p.Ile3642Met
XM_024454389.1:c.10515T>G	XP_024310157.1:p.Ile3505Met