Canonical Allele Identifier: CA359196001

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13758976A>T , CM000667.2:g.13758976A>T	GRCh38
NC_000005.9:g.13759085A>T , CM000667.1:g.13759085A>T	GRCh37
NC_000005.8:g.13812085A>T	NCBI36
NG_013081.1:g.190505T>A
NG_013081.2:g.190505T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.10289T>A MANE Select	NP_001360.1:p.Leu3430Ter
ENST00000265104.5:c.10289T>A MANE Select	ENSP00000265104.4:p.Leu3430Ter
NM_001369.2:c.10289T>A	NP_001360.1:p.Leu3430Ter
ENST00000265104.4:c.10289T>A	ENSP00000265104.4:p.Leu3430Ter
ENST00000681290.1:c.10244T>A	ENSP00000505288.1:p.Leu3415Ter
XM_005248262.2:c.10244T>A	XP_005248319.1:p.Leu3415Ter
XM_005248262.3:c.10397T>A	XP_005248319.2:p.Leu3466Ter
XM_017009177.1:c.10397T>A	XP_016864666.1:p.Leu3466Ter
XM_017009178.1:c.9302T>A	XP_016864667.1:p.Leu3101Ter
XM_017009179.2:c.9302T>A	XP_016864668.1:p.Leu3101Ter
XM_017009180.1:c.10397T>A	XP_016864669.1:p.Leu3466Ter
XM_017009181.1:c.10397T>A	XP_016864670.1:p.Leu3466Ter
XM_017009182.1:c.10397T>A	XP_016864671.1:p.Leu3466Ter
XM_017009185.1:c.5486T>A	XP_016864674.1:p.Leu1829Ter
XM_017009186.1:c.5039T>A	XP_016864675.1:p.Leu1680Ter
XM_017009188.1:c.4376T>A	XP_016864677.1:p.Leu1459Ter
XM_024454388.1:c.9302T>A	XP_024310156.1:p.Leu3101Ter
XM_024454389.1:c.8891T>A	XP_024310157.1:p.Leu2964Ter