Canonical Allele Identifier: CA2573138482

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1567320
• ClinVar RCV Id: RCV002209969
• dbSNP Id: rs2151911511

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13866204A>G , CM000667.2:g.13866204A>G	GRCh38
NC_000005.9:g.13866313A>G , CM000667.1:g.13866313A>G	GRCh37
NC_000005.8:g.13919313A>G	NCBI36
NG_013081.1:g.83277T>C
NG_013081.2:g.83277T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.4116+16T>C MANE Select	ENSP00000265104.4:n.4116+16T>C
ENST00000681290.1:c.4071+16T>C	ENSP00000505288.1:n.4071+16T>C
ENST00000265104.4:c.4116+16T>C	ENSP00000265104.4:n.4116+16T>C
NM_001369.2:c.4116+16T>C	NP_001360.1:n.4116+16T>C
XM_005248262.2:c.4071+16T>C	XP_005248319.1:n.4071+16T>C
XM_011513990.1:c.4116+16T>C	XP_011512292.1:n.4116+16T>C
XR_925598.1:n.4323+16T>C
XM_005248262.3:c.4224+16T>C	XP_005248319.2:n.4224+16T>C
XM_017009177.1:c.4224+16T>C	XP_016864666.1:n.4224+16T>C
XM_017009178.1:c.3129+16T>C	XP_016864667.1:n.3129+16T>C
XM_017009179.2:c.3129+16T>C	XP_016864668.1:n.3129+16T>C
XM_017009180.1:c.4224+16T>C	XP_016864669.1:n.4224+16T>C
XM_017009181.1:c.4224+16T>C	XP_016864670.1:n.4224+16T>C
XM_017009182.1:c.4224+16T>C	XP_016864671.1:n.4224+16T>C
XM_017009183.1:c.4224+16T>C	XP_016864672.1:n.4224+16T>C
XM_017009184.1:c.4224+16T>C	XP_016864673.1:n.4224+16T>C
XM_017009187.1:c.4224+16T>C	XP_016864676.1:n.4224+16T>C
XM_024454388.1:c.3129+16T>C	XP_024310156.1:n.3129+16T>C
XM_024454389.1:c.2718+16T>C	XP_024310157.1:n.2718+16T>C
XR_001742034.1:n.4241+16T>C
XR_001742035.1:n.4241+16T>C
NM_001369.3:c.4116+16T>C MANE Select	NP_001360.1:n.4116+16T>C