Canonical Allele Identifier: CA443256377

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2747864
• ClinVar RCV Id: RCV003536610
• MyVariant Identifiers: chr5:g.13841918A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841809A>C , CM000667.2:g.13841809A>C	GRCh38
NC_000005.9:g.13841918A>C , CM000667.1:g.13841918A>C	GRCh37
NC_000005.8:g.13894918A>C	NCBI36
NG_013081.1:g.107672T>G
NG_013081.2:g.107672T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5367T>G MANE Select	ENSP00000265104.4:p.Leu1789=
ENST00000681290.1:c.5322T>G	ENSP00000505288.1:p.Leu1774=
ENST00000265104.4:c.5367T>G	ENSP00000265104.4:p.Leu1789=
NM_001369.2:c.5367T>G	NP_001360.1:p.Leu1789=
XM_005248262.2:c.5322T>G	XP_005248319.1:p.Leu1774=
XM_011513990.1:c.5367T>G	XP_011512292.1:p.Leu1789=
XR_925598.1:n.5574T>G
XM_005248262.3:c.5475T>G	XP_005248319.2:p.Leu1825=
XM_017009177.1:c.5475T>G	XP_016864666.1:p.Leu1825=
XM_017009178.1:c.4380T>G	XP_016864667.1:p.Leu1460=
XM_017009179.2:c.4380T>G	XP_016864668.1:p.Leu1460=
XM_017009180.1:c.5475T>G	XP_016864669.1:p.Leu1825=
XM_017009181.1:c.5475T>G	XP_016864670.1:p.Leu1825=
XM_017009182.1:c.5475T>G	XP_016864671.1:p.Leu1825=
XM_017009183.1:c.5475T>G	XP_016864672.1:p.Leu1825=
XM_017009184.1:c.5475T>G	XP_016864673.1:p.Leu1825=
XM_017009185.1:c.564T>G	XP_016864674.1:p.Leu188=
XM_017009186.1:c.117T>G	XP_016864675.1:p.Leu39=
XM_017009187.1:c.5475T>G	XP_016864676.1:p.Leu1825=
XM_024454388.1:c.4380T>G	XP_024310156.1:p.Leu1460=
XM_024454389.1:c.3969T>G	XP_024310157.1:p.Leu1323=
XR_001742034.1:n.5492T>G
XR_001742035.1:n.5492T>G
NM_001369.3:c.5367T>G MANE Select	NP_001360.1:p.Leu1789=