Canonical Allele Identifier: CA359210417

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13718984C>A , CM000667.2:g.13718984C>A	GRCh38
NC_000005.9:g.13719093C>A , CM000667.1:g.13719093C>A	GRCh37
NC_000005.8:g.13772093C>A	NCBI36
NG_013081.1:g.230497G>T
NG_013081.2:g.230497G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12397G>T MANE Select	NP_001360.1:p.Glu4133Ter
ENST00000265104.5:c.12397G>T MANE Select	ENSP00000265104.4:p.Glu4133Ter
NM_001369.2:c.12397G>T	NP_001360.1:p.Glu4133Ter
ENST00000265104.4:c.12397G>T	ENSP00000265104.4:p.Glu4133Ter
ENST00000681290.1:c.12352G>T	ENSP00000505288.1:p.Glu4118Ter
XM_005248262.2:c.12352G>T	XP_005248319.1:p.Glu4118Ter
XM_005248262.3:c.12505G>T	XP_005248319.2:p.Glu4169Ter
XM_017009177.1:c.12505G>T	XP_016864666.1:p.Glu4169Ter
XM_017009178.1:c.11410G>T	XP_016864667.1:p.Glu3804Ter
XM_017009179.2:c.11410G>T	XP_016864668.1:p.Glu3804Ter
XM_017009180.1:c.12505G>T	XP_016864669.1:p.Glu4169Ter
XM_017009185.1:c.7594G>T	XP_016864674.1:p.Glu2532Ter
XM_017009186.1:c.7147G>T	XP_016864675.1:p.Glu2383Ter
XM_017009188.1:c.6484G>T	XP_016864677.1:p.Glu2162Ter
XM_024454388.1:c.11410G>T	XP_024310156.1:p.Glu3804Ter
XM_024454389.1:c.10999G>T	XP_024310157.1:p.Glu3667Ter