Canonical Allele Identifier: CA443255883

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2725277
• ClinVar RCV Id: RCV003538932
• MyVariant Identifiers: chr5:g.13841804A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841695A>C , CM000667.2:g.13841695A>C	GRCh38
NC_000005.9:g.13841804A>C , CM000667.1:g.13841804A>C	GRCh37
NC_000005.8:g.13894804A>C	NCBI36
NG_013081.1:g.107786T>G
NG_013081.2:g.107786T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.5481T>G MANE Select	ENSP00000265104.4:p.Ala1827=
ENST00000681290.1:c.5436T>G	ENSP00000505288.1:p.Ala1812=
ENST00000265104.4:c.5481T>G	ENSP00000265104.4:p.Ala1827=
NM_001369.2:c.5481T>G	NP_001360.1:p.Ala1827=
XM_005248262.2:c.5436T>G	XP_005248319.1:p.Ala1812=
XM_011513990.1:c.5481T>G	XP_011512292.1:p.Ala1827=
XR_925598.1:n.5688T>G
XM_005248262.3:c.5589T>G	XP_005248319.2:p.Ala1863=
XM_017009177.1:c.5589T>G	XP_016864666.1:p.Ala1863=
XM_017009178.1:c.4494T>G	XP_016864667.1:p.Ala1498=
XM_017009179.2:c.4494T>G	XP_016864668.1:p.Ala1498=
XM_017009180.1:c.5589T>G	XP_016864669.1:p.Ala1863=
XM_017009181.1:c.5589T>G	XP_016864670.1:p.Ala1863=
XM_017009182.1:c.5589T>G	XP_016864671.1:p.Ala1863=
XM_017009183.1:c.5589T>G	XP_016864672.1:p.Ala1863=
XM_017009184.1:c.5589T>G	XP_016864673.1:p.Ala1863=
XM_017009185.1:c.678T>G	XP_016864674.1:p.Ala226=
XM_017009186.1:c.231T>G	XP_016864675.1:p.Ala77=
XM_017009187.1:c.5589T>G	XP_016864676.1:p.Ala1863=
XM_024454388.1:c.4494T>G	XP_024310156.1:p.Ala1498=
XM_024454389.1:c.4083T>G	XP_024310157.1:p.Ala1361=
XR_001742034.1:n.5606T>G
XR_001742035.1:n.5606T>G
NM_001369.3:c.5481T>G MANE Select	NP_001360.1:p.Ala1827=