Canonical Allele Identifier: CA359218285

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13727602C>A , CM000667.2:g.13727602C>A	GRCh38
NC_000005.9:g.13727711C>A , CM000667.1:g.13727711C>A	GRCh37
NC_000005.8:g.13780711C>A	NCBI36
NG_013081.1:g.221879G>T
NG_013081.2:g.221879G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11938G>T MANE Select	NP_001360.1:p.Glu3980Ter
ENST00000265104.5:c.11938G>T MANE Select	ENSP00000265104.4:p.Glu3980Ter
NM_001369.2:c.11938G>T	NP_001360.1:p.Glu3980Ter
ENST00000265104.4:c.11938G>T	ENSP00000265104.4:p.Glu3980Ter
ENST00000681290.1:c.11893G>T	ENSP00000505288.1:p.Glu3965Ter
XM_005248262.2:c.11893G>T	XP_005248319.1:p.Glu3965Ter
XM_005248262.3:c.12046G>T	XP_005248319.2:p.Glu4016Ter
XM_017009177.1:c.12046G>T	XP_016864666.1:p.Glu4016Ter
XM_017009178.1:c.10951G>T	XP_016864667.1:p.Glu3651Ter
XM_017009179.2:c.10951G>T	XP_016864668.1:p.Glu3651Ter
XM_017009180.1:c.12046G>T	XP_016864669.1:p.Glu4016Ter
XM_017009181.1:c.*41G>T	XP_016864670.1:n.*41G>T
XM_017009185.1:c.7135G>T	XP_016864674.1:p.Glu2379Ter
XM_017009186.1:c.6688G>T	XP_016864675.1:p.Glu2230Ter
XM_017009188.1:c.6025G>T	XP_016864677.1:p.Glu2009Ter
XM_024454388.1:c.10951G>T	XP_024310156.1:p.Glu3651Ter
XM_024454389.1:c.10540G>T	XP_024310157.1:p.Glu3514Ter