Canonical Allele Identifier: CA3202367

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13766115C>T , CM000667.2:g.13766115C>T	GRCh38
NC_000005.9:g.13766224C>T , CM000667.1:g.13766224C>T	GRCh37
NC_000005.8:g.13819224C>T	NCBI36
NG_013081.1:g.183366G>A
NG_013081.2:g.183366G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9962G>A MANE Select	NP_001360.1:p.Arg3321Gln
ENST00000265104.5:c.9962G>A MANE Select	ENSP00000265104.4:p.Arg3321Gln
NM_001369.2:c.9962G>A	NP_001360.1:p.Arg3321Gln
ENST00000265104.4:c.9962G>A	ENSP00000265104.4:p.Arg3321Gln
ENST00000504001.3:n.609+2845G>A
ENST00000681290.1:c.9917G>A	ENSP00000505288.1:p.Arg3306Gln
XM_005248262.2:c.9917G>A	XP_005248319.1:p.Arg3306Gln
XM_005248262.3:c.10070G>A	XP_005248319.2:p.Arg3357Gln
XM_017009177.1:c.10070G>A	XP_016864666.1:p.Arg3357Gln
XM_017009178.1:c.8975G>A	XP_016864667.1:p.Arg2992Gln
XM_017009179.2:c.8975G>A	XP_016864668.1:p.Arg2992Gln
XM_017009180.1:c.10070G>A	XP_016864669.1:p.Arg3357Gln
XM_017009181.1:c.10070G>A	XP_016864670.1:p.Arg3357Gln
XM_017009182.1:c.10070G>A	XP_016864671.1:p.Arg3357Gln
XM_017009185.1:c.5159G>A	XP_016864674.1:p.Arg1720Gln
XM_017009186.1:c.4712G>A	XP_016864675.1:p.Arg1571Gln
XM_017009188.1:c.4049G>A	XP_016864677.1:p.Arg1350Gln
XM_024454388.1:c.8975G>A	XP_024310156.1:p.Arg2992Gln
XM_024454389.1:c.8564G>A	XP_024310157.1:p.Arg2855Gln