Canonical Allele Identifier: CA3202842

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1094218
• ClinVar RCV Id: RCV001414659
• dbSNP Id: rs751595453
• ExAC: 5:13792235 T / C
• gnomAD v2: 5-13792235-T-C
• gnomAD v4: 5-13792126-T-C
• MyVariant Identifiers: chr5:g.13792235T>C (hg19) ; chr5:g.13792126T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792126T>C , CM000667.2:g.13792126T>C	GRCh38
NC_000005.9:g.13792235T>C , CM000667.1:g.13792235T>C	GRCh37
NC_000005.8:g.13845235T>C	NCBI36
NG_013081.1:g.157355A>G
NG_013081.2:g.157355A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8316A>G MANE Select	ENSP00000265104.4:p.Arg2772=
ENST00000681290.1:c.8271A>G	ENSP00000505288.1:p.Arg2757=
ENST00000265104.4:c.8316A>G	ENSP00000265104.4:p.Arg2772=
NM_001369.2:c.8316A>G	NP_001360.1:p.Arg2772=
XM_005248262.2:c.8271A>G	XP_005248319.1:p.Arg2757=
XM_011513990.1:c.8316A>G	XP_011512292.1:p.Arg2772=
XR_925598.1:n.8523A>G
XM_005248262.3:c.8424A>G	XP_005248319.2:p.Arg2808=
XM_017009177.1:c.8424A>G	XP_016864666.1:p.Arg2808=
XM_017009178.1:c.7329A>G	XP_016864667.1:p.Arg2443=
XM_017009179.2:c.7329A>G	XP_016864668.1:p.Arg2443=
XM_017009180.1:c.8424A>G	XP_016864669.1:p.Arg2808=
XM_017009181.1:c.8424A>G	XP_016864670.1:p.Arg2808=
XM_017009182.1:c.8424A>G	XP_016864671.1:p.Arg2808=
XM_017009183.1:c.8424A>G	XP_016864672.1:p.Arg2808=
XM_017009184.1:c.8424A>G	XP_016864673.1:p.Arg2808=
XM_017009185.1:c.3513A>G	XP_016864674.1:p.Arg1171=
XM_017009186.1:c.3066A>G	XP_016864675.1:p.Arg1022=
XM_017009188.1:c.2403A>G	XP_016864677.1:p.Arg801=
XM_024454388.1:c.7329A>G	XP_024310156.1:p.Arg2443=
XM_024454389.1:c.6918A>G	XP_024310157.1:p.Arg2306=
XR_001742034.1:n.8441A>G
XR_001742035.1:n.8441A>G
NM_001369.3:c.8316A>G MANE Select	NP_001360.1:p.Arg2772=