Canonical Allele Identifier: CA359202599

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 570323
• ClinVar RCV Id: RCV000691163
• dbSNP Id: rs1298790222
• gnomAD v2: 5-13830775-C-T
• gnomAD v3: 5-13830666-C-T
• gnomAD v4: 5-13830666-C-T
• MyVariant Identifiers: chr5:g.13830775C>T (hg19) ; chr5:g.13830666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830666C>T , CM000667.2:g.13830666C>T	GRCh38
NC_000005.9:g.13830775C>T , CM000667.1:g.13830775C>T	GRCh37
NC_000005.8:g.13883775C>T	NCBI36
NG_013081.1:g.118815G>A
NG_013081.2:g.118815G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.923G>A
ENST00000265104.5:c.5992G>A MANE Select	ENSP00000265104.4:p.Gly1998Arg
ENST00000681290.1:c.5947G>A	ENSP00000505288.1:p.Gly1983Arg
ENST00000265104.4:c.5992G>A	ENSP00000265104.4:p.Gly1998Arg
NM_001369.2:c.5992G>A	NP_001360.1:p.Gly1998Arg
XM_005248262.2:c.5947G>A	XP_005248319.1:p.Gly1983Arg
XM_011513990.1:c.5992G>A	XP_011512292.1:p.Gly1998Arg
XR_925598.1:n.6199G>A
XM_005248262.3:c.6100G>A	XP_005248319.2:p.Gly2034Arg
XM_017009177.1:c.6100G>A	XP_016864666.1:p.Gly2034Arg
XM_017009178.1:c.5005G>A	XP_016864667.1:p.Gly1669Arg
XM_017009179.2:c.5005G>A	XP_016864668.1:p.Gly1669Arg
XM_017009180.1:c.6100G>A	XP_016864669.1:p.Gly2034Arg
XM_017009181.1:c.6100G>A	XP_016864670.1:p.Gly2034Arg
XM_017009182.1:c.6100G>A	XP_016864671.1:p.Gly2034Arg
XM_017009183.1:c.6100G>A	XP_016864672.1:p.Gly2034Arg
XM_017009184.1:c.6100G>A	XP_016864673.1:p.Gly2034Arg
XM_017009185.1:c.1189G>A	XP_016864674.1:p.Gly397Arg
XM_017009186.1:c.742G>A	XP_016864675.1:p.Gly248Arg
XM_017009187.1:c.6100G>A	XP_016864676.1:p.Gly2034Arg
XM_017009188.1:c.79G>A	XP_016864677.1:p.Gly27Arg
XM_024454388.1:c.5005G>A	XP_024310156.1:p.Gly1669Arg
XM_024454389.1:c.4594G>A	XP_024310157.1:p.Gly1532Arg
XR_001742034.1:n.6117G>A
XR_001742035.1:n.6117G>A
NM_001369.3:c.5992G>A MANE Select	NP_001360.1:p.Gly1998Arg