Canonical Allele Identifier: CA232595

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 139598
• ClinVar RCV Id: RCV000128539
• dbSNP Id: rs483353127
• MyVariant Identifiers: chr5:g.13917355T>G (hg19) ; chr5:g.13917246T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13917246T>G , CM000667.2:g.13917246T>G	GRCh38
NC_000005.9:g.13917355T>G , CM000667.1:g.13917355T>G	GRCh37
NC_000005.8:g.13970355T>G	NCBI36
NG_013081.1:g.32235A>C
NG_013081.2:g.32235A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1042A>C
ENST00000682376.1:n.2949A>C
ENST00000682586.1:n.2998A>C
ENST00000683011.1:n.925A>C
ENST00000683967.1:n.1085A>C
ENST00000684013.1:n.1085A>C
ENST00000684099.1:n.1081A>C
ENST00000265104.5:c.986A>C MANE Select	ENSP00000265104.4:p.Glu329Ala
ENST00000680213.1:c.746A>C	ENSP00000506622.1:p.Glu249Ala
ENST00000681290.1:c.941A>C	ENSP00000505288.1:p.Glu314Ala
ENST00000265104.4:c.986A>C	ENSP00000265104.4:p.Glu329Ala
ENST00000508040.1:n.1394A>C
NM_001369.2:c.986A>C	NP_001360.1:p.Glu329Ala
XM_005248262.2:c.941A>C	XP_005248319.1:p.Glu314Ala
XM_011513990.1:c.986A>C	XP_011512292.1:p.Glu329Ala
XR_925598.1:n.1193A>C
XM_005248262.3:c.1094A>C	XP_005248319.2:p.Glu365Ala
XM_017009177.1:c.1094A>C	XP_016864666.1:p.Glu365Ala
XM_017009178.1:c.-2A>C	XP_016864667.1:n.-2A>C
XM_017009179.2:c.-2A>C	XP_016864668.1:n.-2A>C
XM_017009180.1:c.1094A>C	XP_016864669.1:p.Glu365Ala
XM_017009181.1:c.1094A>C	XP_016864670.1:p.Glu365Ala
XM_017009182.1:c.1094A>C	XP_016864671.1:p.Glu365Ala
XM_017009183.1:c.1094A>C	XP_016864672.1:p.Glu365Ala
XM_017009184.1:c.1094A>C	XP_016864673.1:p.Glu365Ala
XM_017009187.1:c.1094A>C	XP_016864676.1:p.Glu365Ala
XM_024454388.1:c.-2A>C	XP_024310156.1:n.-2A>C
XM_024454389.1:c.-974A>C	XP_024310157.1:n.-974A>C
XR_001742034.1:n.1111A>C
XR_001742035.1:n.1111A>C
NM_001369.3:c.986A>C MANE Select	NP_001360.1:p.Glu329Ala