Canonical Allele Identifier: CA443263466

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13792235T>G (hg19)

Genomic Alleles

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

Transcript Alleles

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