Canonical Allele Identifier: CA443254893

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13839357-T-G
• MyVariant Identifiers: chr5:g.13839466T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13839357T>G , CM000667.2:g.13839357T>G	GRCh38
NC_000005.9:g.13839466T>G , CM000667.1:g.13839466T>G	GRCh37
NC_000005.8:g.13892466T>G	NCBI36
NG_013081.1:g.110124A>C
NG_013081.2:g.110124A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5881A>C MANE Select	ENSP00000265104.4:p.Arg1961=
ENST00000681290.1:c.5836A>C	ENSP00000505288.1:p.Arg1946=
ENST00000265104.4:c.5881A>C	ENSP00000265104.4:p.Arg1961=
NM_001369.2:c.5881A>C	NP_001360.1:p.Arg1961=
XM_005248262.2:c.5836A>C	XP_005248319.1:p.Arg1946=
XM_011513990.1:c.5881A>C	XP_011512292.1:p.Arg1961=
XR_925598.1:n.6088A>C
XM_005248262.3:c.5989A>C	XP_005248319.2:p.Arg1997=
XM_017009177.1:c.5989A>C	XP_016864666.1:p.Arg1997=
XM_017009178.1:c.4894A>C	XP_016864667.1:p.Arg1632=
XM_017009179.2:c.4894A>C	XP_016864668.1:p.Arg1632=
XM_017009180.1:c.5989A>C	XP_016864669.1:p.Arg1997=
XM_017009181.1:c.5989A>C	XP_016864670.1:p.Arg1997=
XM_017009182.1:c.5989A>C	XP_016864671.1:p.Arg1997=
XM_017009183.1:c.5989A>C	XP_016864672.1:p.Arg1997=
XM_017009184.1:c.5989A>C	XP_016864673.1:p.Arg1997=
XM_017009185.1:c.1078A>C	XP_016864674.1:p.Arg360=
XM_017009186.1:c.631A>C	XP_016864675.1:p.Arg211=
XM_017009187.1:c.5989A>C	XP_016864676.1:p.Arg1997=
XM_024454388.1:c.4894A>C	XP_024310156.1:p.Arg1632=
XM_024454389.1:c.4483A>C	XP_024310157.1:p.Arg1495=
XR_001742034.1:n.6006A>C
XR_001742035.1:n.6006A>C
NM_001369.3:c.5881A>C MANE Select	NP_001360.1:p.Arg1961=