Canonical Allele Identifier: CA359223945

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 454767
• ClinVar RCV Id: RCV000528988 ; RCV000623374
• dbSNP Id: rs116128702
• COSMIC: COSM5810431
• MyVariant Identifiers: chr5:g.13923478C>A (hg19) ; chr5:g.13923369C>A (hg38)
• PubMed: PMID:11788826 ; PMID:12615011 ; PMID:16627867 ; PMID:19357118 ; PMID:23261302 ; PMID:24267886

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13923369C>A , CM000667.2:g.13923369C>A	GRCh38
NC_000005.9:g.13923478C>A , CM000667.1:g.13923478C>A	GRCh37
NC_000005.8:g.13976478C>A	NCBI36
NG_013081.1:g.26112G>T
NG_013081.2:g.26112G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.405G>T
ENST00000682376.1:n.393G>T
ENST00000682586.1:n.393G>T
ENST00000683011.1:n.335-47G>T
ENST00000683967.1:n.399G>T
ENST00000684013.1:n.399G>T
ENST00000684099.1:n.444G>T
ENST00000265104.5:c.349G>T MANE Select	ENSP00000265104.4:p.Glu117Ter
ENST00000680213.1:c.109G>T	ENSP00000506622.1:p.Glu37Ter
ENST00000681290.1:c.304G>T	ENSP00000505288.1:p.Glu102Ter
ENST00000265104.4:c.349G>T	ENSP00000265104.4:p.Glu117Ter
ENST00000508040.1:n.708G>T
NM_001369.2:c.349G>T	NP_001360.1:p.Glu117Ter
XM_005248262.2:c.304G>T	XP_005248319.1:p.Glu102Ter
XM_011513990.1:c.349G>T	XP_011512292.1:p.Glu117Ter
XR_925598.1:n.556G>T
XM_005248262.3:c.457G>T	XP_005248319.2:p.Glu153Ter
XM_017009177.1:c.457G>T	XP_016864666.1:p.Glu153Ter
XM_017009178.1:c.-688G>T	XP_016864667.1:n.-688G>T
XM_017009180.1:c.457G>T	XP_016864669.1:p.Glu153Ter
XM_017009181.1:c.457G>T	XP_016864670.1:p.Glu153Ter
XM_017009182.1:c.457G>T	XP_016864671.1:p.Glu153Ter
XM_017009183.1:c.457G>T	XP_016864672.1:p.Glu153Ter
XM_017009184.1:c.457G>T	XP_016864673.1:p.Glu153Ter
XM_017009187.1:c.457G>T	XP_016864676.1:p.Glu153Ter
XM_024454388.1:c.-2558G>T	XP_024310156.1:n.-2558G>T
XM_024454389.1:c.-1611G>T	XP_024310157.1:n.-1611G>T
XR_001742034.1:n.474G>T
XR_001742035.1:n.474G>T
NM_001369.3:c.349G>T MANE Select	NP_001360.1:p.Glu117Ter