Canonical Allele Identifier: CA359226959

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13928121A>G , CM000667.2:g.13928121A>G	GRCh38
NC_000005.9:g.13928230A>G , CM000667.1:g.13928230A>G	GRCh37
NC_000005.8:g.13981230A>G	NCBI36
NG_013081.1:g.21360T>C
NG_013081.2:g.21360T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.250T>C MANE Select	NP_001360.1:p.Tyr84His
ENST00000265104.5:c.250T>C MANE Select	ENSP00000265104.4:p.Tyr84His
NM_001369.2:c.250T>C	NP_001360.1:p.Tyr84His
ENST00000265104.4:c.250T>C	ENSP00000265104.4:p.Tyr84His
ENST00000508040.1:n.609T>C
ENST00000680213.1:c.10T>C	ENSP00000506622.1:p.Tyr4His
ENST00000680213.2:n.306T>C
ENST00000681290.1:c.205T>C	ENSP00000505288.1:p.Tyr69His
ENST00000682376.1:n.294T>C
ENST00000682586.1:n.294T>C
ENST00000683011.1:n.284T>C
ENST00000683967.1:n.300T>C
ENST00000684013.1:n.300T>C
ENST00000684099.1:n.345T>C
XM_005248262.2:c.205T>C	XP_005248319.1:p.Tyr69His
XM_005248262.3:c.358T>C	XP_005248319.2:p.Tyr120His
XM_011513990.1:c.250T>C	XP_011512292.1:p.Tyr84His
XM_017009177.1:c.358T>C	XP_016864666.1:p.Tyr120His
XM_017009178.1:c.-787T>C	XP_016864667.1:n.-787T>C
XM_017009180.1:c.358T>C	XP_016864669.1:p.Tyr120His
XM_017009181.1:c.358T>C	XP_016864670.1:p.Tyr120His
XM_017009182.1:c.358T>C	XP_016864671.1:p.Tyr120His
XM_017009183.1:c.358T>C	XP_016864672.1:p.Tyr120His
XM_017009184.1:c.358T>C	XP_016864673.1:p.Tyr120His
XM_017009187.1:c.358T>C	XP_016864676.1:p.Tyr120His
XM_024454388.1:c.-2657T>C	XP_024310156.1:n.-2657T>C
XM_024454389.1:c.-1710T>C	XP_024310157.1:n.-1710T>C
XR_001742034.1:n.375T>C
XR_001742035.1:n.375T>C
XR_925598.1:n.457T>C