Canonical Allele Identifier: CA359221207

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1725482
• ClinVar RCV Id: RCV002309166
• MyVariant Identifiers: chr5:g.13793687T>A (hg19) ; chr5:g.13793578T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793578T>A , CM000667.2:g.13793578T>A	GRCh38
NC_000005.9:g.13793687T>A , CM000667.1:g.13793687T>A	GRCh37
NC_000005.8:g.13846687T>A	NCBI36
NG_013081.1:g.155903A>T
NG_013081.2:g.155903A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8161A>T MANE Select	ENSP00000265104.4:p.Lys2721Ter
ENST00000681290.1:c.8116A>T	ENSP00000505288.1:p.Lys2706Ter
ENST00000265104.4:c.8161A>T	ENSP00000265104.4:p.Lys2721Ter
NM_001369.2:c.8161A>T	NP_001360.1:p.Lys2721Ter
XM_005248262.2:c.8116A>T	XP_005248319.1:p.Lys2706Ter
XM_011513990.1:c.8161A>T	XP_011512292.1:p.Lys2721Ter
XR_925598.1:n.8368A>T
XM_005248262.3:c.8269A>T	XP_005248319.2:p.Lys2757Ter
XM_017009177.1:c.8269A>T	XP_016864666.1:p.Lys2757Ter
XM_017009178.1:c.7174A>T	XP_016864667.1:p.Lys2392Ter
XM_017009179.2:c.7174A>T	XP_016864668.1:p.Lys2392Ter
XM_017009180.1:c.8269A>T	XP_016864669.1:p.Lys2757Ter
XM_017009181.1:c.8269A>T	XP_016864670.1:p.Lys2757Ter
XM_017009182.1:c.8269A>T	XP_016864671.1:p.Lys2757Ter
XM_017009183.1:c.8269A>T	XP_016864672.1:p.Lys2757Ter
XM_017009184.1:c.8269A>T	XP_016864673.1:p.Lys2757Ter
XM_017009185.1:c.3358A>T	XP_016864674.1:p.Lys1120Ter
XM_017009186.1:c.2911A>T	XP_016864675.1:p.Lys971Ter
XM_017009188.1:c.2248A>T	XP_016864677.1:p.Lys750Ter
XM_024454388.1:c.7174A>T	XP_024310156.1:p.Lys2392Ter
XM_024454389.1:c.6763A>T	XP_024310157.1:p.Lys2255Ter
XR_001742034.1:n.8286A>T
XR_001742035.1:n.8286A>T
NM_001369.3:c.8161A>T MANE Select	NP_001360.1:p.Lys2721Ter