Canonical Allele Identifier: CA443275610

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13911452T>C , CM000667.2:g.13911452T>C	GRCh38
NC_000005.9:g.13911561T>C , CM000667.1:g.13911561T>C	GRCh37
NC_000005.8:g.13964561T>C	NCBI36
NG_013081.1:g.38029A>G
NG_013081.2:g.38029A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1578A>G MANE Select	NP_001360.1:p.Leu526=
ENST00000265104.5:c.1578A>G MANE Select	ENSP00000265104.4:p.Leu526=
NM_001369.2:c.1578A>G	NP_001360.1:p.Leu526=
ENST00000265104.4:c.1578A>G	ENSP00000265104.4:p.Leu526=
ENST00000508040.1:n.1986A>G
ENST00000680213.1:c.1338A>G	ENSP00000506622.1:p.Leu446=
ENST00000680213.2:n.1634A>G
ENST00000681290.1:c.1533A>G	ENSP00000505288.1:p.Leu511=
ENST00000683011.1:n.1517A>G
ENST00000683967.1:n.3943A>G
ENST00000684013.1:n.2238A>G
ENST00000684099.1:n.2234A>G
XM_005248262.2:c.1533A>G	XP_005248319.1:p.Leu511=
XM_005248262.3:c.1686A>G	XP_005248319.2:p.Leu562=
XM_011513990.1:c.1578A>G	XP_011512292.1:p.Leu526=
XM_017009177.1:c.1686A>G	XP_016864666.1:p.Leu562=
XM_017009178.1:c.591A>G	XP_016864667.1:p.Leu197=
XM_017009179.2:c.591A>G	XP_016864668.1:p.Leu197=
XM_017009180.1:c.1686A>G	XP_016864669.1:p.Leu562=
XM_017009181.1:c.1686A>G	XP_016864670.1:p.Leu562=
XM_017009182.1:c.1686A>G	XP_016864671.1:p.Leu562=
XM_017009183.1:c.1686A>G	XP_016864672.1:p.Leu562=
XM_017009184.1:c.1686A>G	XP_016864673.1:p.Leu562=
XM_017009187.1:c.1686A>G	XP_016864676.1:p.Leu562=
XM_024454388.1:c.591A>G	XP_024310156.1:p.Leu197=
XM_024454389.1:c.180A>G	XP_024310157.1:p.Leu60=
XR_001742034.1:n.1703A>G
XR_001742035.1:n.1703A>G
XR_925598.1:n.1785A>G