Canonical Allele Identifier: CA10622842

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13810219C>T , CM000667.2:g.13810219C>T	GRCh38
NC_000005.9:g.13810328C>T , CM000667.1:g.13810328C>T	GRCh37
NC_000005.8:g.13863328C>T	NCBI36
NG_013081.1:g.139262G>A
NG_013081.2:g.139262G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.7449G>A MANE Select	NP_001360.1:p.Leu2483=
ENST00000265104.5:c.7449G>A MANE Select	ENSP00000265104.4:p.Leu2483=
NM_001369.2:c.7449G>A	NP_001360.1:p.Leu2483=
ENST00000265104.4:c.7449G>A	ENSP00000265104.4:p.Leu2483=
ENST00000512443.1:n.305G>A
ENST00000681290.1:c.7404G>A	ENSP00000505288.1:p.Leu2468=
XM_005248262.2:c.7404G>A	XP_005248319.1:p.Leu2468=
XM_005248262.3:c.7557G>A	XP_005248319.2:p.Leu2519=
XM_011513990.1:c.7449G>A	XP_011512292.1:p.Leu2483=
XM_017009177.1:c.7557G>A	XP_016864666.1:p.Leu2519=
XM_017009178.1:c.6462G>A	XP_016864667.1:p.Leu2154=
XM_017009179.2:c.6462G>A	XP_016864668.1:p.Leu2154=
XM_017009180.1:c.7557G>A	XP_016864669.1:p.Leu2519=
XM_017009181.1:c.7557G>A	XP_016864670.1:p.Leu2519=
XM_017009182.1:c.7557G>A	XP_016864671.1:p.Leu2519=
XM_017009183.1:c.7557G>A	XP_016864672.1:p.Leu2519=
XM_017009184.1:c.7557G>A	XP_016864673.1:p.Leu2519=
XM_017009185.1:c.2646G>A	XP_016864674.1:p.Leu882=
XM_017009186.1:c.2199G>A	XP_016864675.1:p.Leu733=
XM_017009187.1:c.7557G>A	XP_016864676.1:p.Leu2519=
XM_017009188.1:c.1536G>A	XP_016864677.1:p.Leu512=
XM_024454388.1:c.6462G>A	XP_024310156.1:p.Leu2154=
XM_024454389.1:c.6051G>A	XP_024310157.1:p.Leu2017=
XR_001742034.1:n.7574G>A
XR_001742035.1:n.7574G>A
XR_925598.1:n.7656G>A