Canonical Allele Identifier: CA359209662

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1725436
• ClinVar RCV Id: RCV002309120
• MyVariant Identifiers: chr5:g.13776782C>A (hg19) ; chr5:g.13776673C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776673C>A , CM000667.2:g.13776673C>A	GRCh38
NC_000005.9:g.13776782C>A , CM000667.1:g.13776782C>A	GRCh37
NC_000005.8:g.13829782C>A	NCBI36
NG_013081.1:g.172808G>T
NG_013081.2:g.172808G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9139G>T MANE Select	ENSP00000265104.4:p.Glu3047Ter
ENST00000681290.1:c.9094G>T	ENSP00000505288.1:p.Glu3032Ter
ENST00000265104.4:c.9139G>T	ENSP00000265104.4:p.Glu3047Ter
NM_001369.2:c.9139G>T	NP_001360.1:p.Glu3047Ter
XM_005248262.2:c.9094G>T	XP_005248319.1:p.Glu3032Ter
XM_011513990.1:c.*26G>T	XP_011512292.1:n.*26G>T
XR_925598.1:n.9210G>T
XM_005248262.3:c.9247G>T	XP_005248319.2:p.Glu3083Ter
XM_017009177.1:c.9247G>T	XP_016864666.1:p.Glu3083Ter
XM_017009178.1:c.8152G>T	XP_016864667.1:p.Glu2718Ter
XM_017009179.2:c.8152G>T	XP_016864668.1:p.Glu2718Ter
XM_017009180.1:c.9247G>T	XP_016864669.1:p.Glu3083Ter
XM_017009181.1:c.9247G>T	XP_016864670.1:p.Glu3083Ter
XM_017009182.1:c.9247G>T	XP_016864671.1:p.Glu3083Ter
XM_017009183.1:c.9247G>T	XP_016864672.1:p.Glu3083Ter
XM_017009184.1:c.*26G>T	XP_016864673.1:n.*26G>T
XM_017009185.1:c.4336G>T	XP_016864674.1:p.Glu1446Ter
XM_017009186.1:c.3889G>T	XP_016864675.1:p.Glu1297Ter
XM_017009188.1:c.3226G>T	XP_016864677.1:p.Glu1076Ter
XM_024454388.1:c.8152G>T	XP_024310156.1:p.Glu2718Ter
XM_024454389.1:c.7741G>T	XP_024310157.1:p.Glu2581Ter
XR_001742034.1:n.9133G>T
XR_001742035.1:n.9128G>T
NM_001369.3:c.9139G>T MANE Select	NP_001360.1:p.Glu3047Ter