Canonical Allele Identifier: CA3204977

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13917151T>G , CM000667.2:g.13917151T>G	GRCh38
NC_000005.9:g.13917260T>G , CM000667.1:g.13917260T>G	GRCh37
NC_000005.8:g.13970260T>G	NCBI36
NG_013081.1:g.32330A>C
NG_013081.2:g.32330A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1081A>C MANE Select	NP_001360.1:p.Ser361Arg
ENST00000265104.5:c.1081A>C MANE Select	ENSP00000265104.4:p.Ser361Arg
NM_001369.2:c.1081A>C	NP_001360.1:p.Ser361Arg
ENST00000265104.4:c.1081A>C	ENSP00000265104.4:p.Ser361Arg
ENST00000508040.1:n.1489A>C
ENST00000680213.1:c.841A>C	ENSP00000506622.1:p.Ser281Arg
ENST00000680213.2:n.1137A>C
ENST00000681290.1:c.1036A>C	ENSP00000505288.1:p.Ser346Arg
ENST00000682376.1:n.3044A>C
ENST00000682586.1:n.3093A>C
ENST00000683011.1:n.1020A>C
ENST00000683967.1:n.1180A>C
ENST00000684013.1:n.1180A>C
ENST00000684099.1:n.1176A>C
XM_005248262.2:c.1036A>C	XP_005248319.1:p.Ser346Arg
XM_005248262.3:c.1189A>C	XP_005248319.2:p.Ser397Arg
XM_011513990.1:c.1081A>C	XP_011512292.1:p.Ser361Arg
XM_017009177.1:c.1189A>C	XP_016864666.1:p.Ser397Arg
XM_017009178.1:c.94A>C	XP_016864667.1:p.Ser32Arg
XM_017009179.2:c.94A>C	XP_016864668.1:p.Ser32Arg
XM_017009180.1:c.1189A>C	XP_016864669.1:p.Ser397Arg
XM_017009181.1:c.1189A>C	XP_016864670.1:p.Ser397Arg
XM_017009182.1:c.1189A>C	XP_016864671.1:p.Ser397Arg
XM_017009183.1:c.1189A>C	XP_016864672.1:p.Ser397Arg
XM_017009184.1:c.1189A>C	XP_016864673.1:p.Ser397Arg
XM_017009187.1:c.1189A>C	XP_016864676.1:p.Ser397Arg
XM_024454388.1:c.94A>C	XP_024310156.1:p.Ser32Arg
XM_024454389.1:c.-879A>C	XP_024310157.1:n.-879A>C
XR_001742034.1:n.1206A>C
XR_001742035.1:n.1206A>C
XR_925598.1:n.1288A>C