Canonical Allele Identifier: CA3204715

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 699706
• ClinVar RCV Id: RCV000867619
• dbSNP Id: rs545295433
• ExAC: 5:13901508 A / G
• gnomAD v2: 5-13901508-A-G
• gnomAD v3: 5-13901399-A-G
• gnomAD v4: 5-13901399-A-G
• MyVariant Identifiers: chr5:g.13901508A>G (hg19) ; chr5:g.13901399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901399A>G , CM000667.2:g.13901399A>G	GRCh38
NC_000005.9:g.13901508A>G , CM000667.1:g.13901508A>G	GRCh37
NC_000005.8:g.13954508A>G	NCBI36
NG_013081.1:g.48082T>C
NG_013081.2:g.48082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.1905T>C MANE Select	ENSP00000265104.4:p.His635=
ENST00000681290.1:c.1860T>C	ENSP00000505288.1:p.His620=
ENST00000265104.4:c.1905T>C	ENSP00000265104.4:p.His635=
NM_001369.2:c.1905T>C	NP_001360.1:p.His635=
XM_005248262.2:c.1860T>C	XP_005248319.1:p.His620=
XM_011513990.1:c.1905T>C	XP_011512292.1:p.His635=
XR_925598.1:n.2112T>C
XM_005248262.3:c.2013T>C	XP_005248319.2:p.His671=
XM_017009177.1:c.2013T>C	XP_016864666.1:p.His671=
XM_017009178.1:c.918T>C	XP_016864667.1:p.His306=
XM_017009179.2:c.918T>C	XP_016864668.1:p.His306=
XM_017009180.1:c.2013T>C	XP_016864669.1:p.His671=
XM_017009181.1:c.2013T>C	XP_016864670.1:p.His671=
XM_017009182.1:c.2013T>C	XP_016864671.1:p.His671=
XM_017009183.1:c.2013T>C	XP_016864672.1:p.His671=
XM_017009184.1:c.2013T>C	XP_016864673.1:p.His671=
XM_017009187.1:c.2013T>C	XP_016864676.1:p.His671=
XM_024454388.1:c.918T>C	XP_024310156.1:p.His306=
XM_024454389.1:c.507T>C	XP_024310157.1:p.His169=
XR_001742034.1:n.2030T>C
XR_001742035.1:n.2030T>C
NM_001369.3:c.1905T>C MANE Select	NP_001360.1:p.His635=