Canonical Allele Identifier: CA359218788

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13919331T>C (hg19) ; chr5:g.13919222T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919222T>C , CM000667.2:g.13919222T>C	GRCh38
NC_000005.9:g.13919331T>C , CM000667.1:g.13919331T>C	GRCh37
NC_000005.8:g.13972331T>C	NCBI36
NG_013081.1:g.30259A>G
NG_013081.2:g.30259A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.985A>G
ENST00000682376.1:n.973A>G
ENST00000682586.1:n.1022A>G
ENST00000683011.1:n.868A>G
ENST00000683967.1:n.1028A>G
ENST00000684013.1:n.1028A>G
ENST00000684099.1:n.1024A>G
ENST00000265104.5:c.929A>G MANE Select	ENSP00000265104.4:p.Lys310Arg
ENST00000680213.1:c.689A>G	ENSP00000506622.1:p.Lys230Arg
ENST00000681290.1:c.884A>G	ENSP00000505288.1:p.Lys295Arg
ENST00000265104.4:c.929A>G	ENSP00000265104.4:p.Lys310Arg
ENST00000508040.1:n.1337A>G
NM_001369.2:c.929A>G	NP_001360.1:p.Lys310Arg
XM_005248262.2:c.884A>G	XP_005248319.1:p.Lys295Arg
XM_011513990.1:c.929A>G	XP_011512292.1:p.Lys310Arg
XR_925598.1:n.1136A>G
XM_005248262.3:c.1037A>G	XP_005248319.2:p.Lys346Arg
XM_017009177.1:c.1037A>G	XP_016864666.1:p.Lys346Arg
XM_017009178.1:c.-59A>G	XP_016864667.1:n.-59A>G
XM_017009180.1:c.1037A>G	XP_016864669.1:p.Lys346Arg
XM_017009181.1:c.1037A>G	XP_016864670.1:p.Lys346Arg
XM_017009182.1:c.1037A>G	XP_016864671.1:p.Lys346Arg
XM_017009183.1:c.1037A>G	XP_016864672.1:p.Lys346Arg
XM_017009184.1:c.1037A>G	XP_016864673.1:p.Lys346Arg
XM_017009187.1:c.1037A>G	XP_016864676.1:p.Lys346Arg
XM_024454388.1:c.-1978A>G	XP_024310156.1:n.-1978A>G
XM_024454389.1:c.-1031A>G	XP_024310157.1:n.-1031A>G
XR_001742034.1:n.1054A>G
XR_001742035.1:n.1054A>G
NM_001369.3:c.929A>G MANE Select	NP_001360.1:p.Lys310Arg