Canonical Allele Identifier: CA2695198581

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2671846
• ClinVar RCV Id: RCV003448945

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901249C>A , CM000667.2:g.13901249C>A	GRCh38
NC_000005.9:g.13901358C>A , CM000667.1:g.13901358C>A	GRCh37
NC_000005.8:g.13954358C>A	NCBI36
NG_013081.1:g.48232G>T
NG_013081.2:g.48232G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2052+3G>T MANE Select	ENSP00000265104.4:n.2052+3G>T
ENST00000681290.1:c.2007+3G>T	ENSP00000505288.1:n.2007+3G>T
ENST00000265104.4:c.2052+3G>T	ENSP00000265104.4:n.2052+3G>T
NM_001369.2:c.2052+3G>T	NP_001360.1:n.2052+3G>T
XM_005248262.2:c.2007+3G>T	XP_005248319.1:n.2007+3G>T
XM_011513990.1:c.2052+3G>T	XP_011512292.1:n.2052+3G>T
XR_925598.1:n.2259+3G>T
XM_005248262.3:c.2160+3G>T	XP_005248319.2:n.2160+3G>T
XM_017009177.1:c.2160+3G>T	XP_016864666.1:n.2160+3G>T
XM_017009178.1:c.1065+3G>T	XP_016864667.1:n.1065+3G>T
XM_017009179.2:c.1065+3G>T	XP_016864668.1:n.1065+3G>T
XM_017009180.1:c.2160+3G>T	XP_016864669.1:n.2160+3G>T
XM_017009181.1:c.2160+3G>T	XP_016864670.1:n.2160+3G>T
XM_017009182.1:c.2160+3G>T	XP_016864671.1:n.2160+3G>T
XM_017009183.1:c.2160+3G>T	XP_016864672.1:n.2160+3G>T
XM_017009184.1:c.2160+3G>T	XP_016864673.1:n.2160+3G>T
XM_017009187.1:c.2160+3G>T	XP_016864676.1:n.2160+3G>T
XM_024454388.1:c.1065+3G>T	XP_024310156.1:n.1065+3G>T
XM_024454389.1:c.654+3G>T	XP_024310157.1:n.654+3G>T
XR_001742034.1:n.2177+3G>T
XR_001742035.1:n.2177+3G>T
NM_001369.3:c.2052+3G>T MANE Select	NP_001360.1:n.2052+3G>T