Canonical Allele Identifier: CA3202898

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351055
• ClinVar RCV Id: RCV000287171 ; RCV002058509
• dbSNP Id: rs760739660
• ExAC: 5:13793749 A / G
• gnomAD v2: 5-13793749-A-G
• gnomAD v3: 5-13793640-A-G
• gnomAD v4: 5-13793640-A-G
• MyVariant Identifiers: chr5:g.13793749A>G (hg19) ; chr5:g.13793640A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793640A>G , CM000667.2:g.13793640A>G	GRCh38
NC_000005.9:g.13793749A>G , CM000667.1:g.13793749A>G	GRCh37
NC_000005.8:g.13846749A>G	NCBI36
NG_013081.1:g.155841T>C
NG_013081.2:g.155841T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.8099T>C MANE Select	ENSP00000265104.4:p.Ile2700Thr
ENST00000681290.1:c.8054T>C	ENSP00000505288.1:p.Ile2685Thr
ENST00000265104.4:c.8099T>C	ENSP00000265104.4:p.Ile2700Thr
NM_001369.2:c.8099T>C	NP_001360.1:p.Ile2700Thr
XM_005248262.2:c.8054T>C	XP_005248319.1:p.Ile2685Thr
XM_011513990.1:c.8099T>C	XP_011512292.1:p.Ile2700Thr
XR_925598.1:n.8306T>C
XM_005248262.3:c.8207T>C	XP_005248319.2:p.Ile2736Thr
XM_017009177.1:c.8207T>C	XP_016864666.1:p.Ile2736Thr
XM_017009178.1:c.7112T>C	XP_016864667.1:p.Ile2371Thr
XM_017009179.2:c.7112T>C	XP_016864668.1:p.Ile2371Thr
XM_017009180.1:c.8207T>C	XP_016864669.1:p.Ile2736Thr
XM_017009181.1:c.8207T>C	XP_016864670.1:p.Ile2736Thr
XM_017009182.1:c.8207T>C	XP_016864671.1:p.Ile2736Thr
XM_017009183.1:c.8207T>C	XP_016864672.1:p.Ile2736Thr
XM_017009184.1:c.8207T>C	XP_016864673.1:p.Ile2736Thr
XM_017009185.1:c.3296T>C	XP_016864674.1:p.Ile1099Thr
XM_017009186.1:c.2849T>C	XP_016864675.1:p.Ile950Thr
XM_017009188.1:c.2186T>C	XP_016864677.1:p.Ile729Thr
XM_024454388.1:c.7112T>C	XP_024310156.1:p.Ile2371Thr
XM_024454389.1:c.6701T>C	XP_024310157.1:p.Ile2234Thr
XR_001742034.1:n.8224T>C
XR_001742035.1:n.8224T>C
NM_001369.3:c.8099T>C MANE Select	NP_001360.1:p.Ile2700Thr