Canonical Allele Identifier: CA1528448779

Gene: DNAH5

Linked Data

• dbSNP Id: rs926266585
• gnomAD v4: 5-13810042-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13810042C>A , CM000667.2:g.13810042C>A	GRCh38
NC_000005.9:g.13810151C>A , CM000667.1:g.13810151C>A	GRCh37
NC_000005.8:g.13863151C>A	NCBI36
NG_013081.1:g.139439G>T
NG_013081.2:g.139439G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.7609+17G>T MANE Select	ENSP00000265104.4:n.7609+17G>T
ENST00000681290.1:c.7564+17G>T	ENSP00000505288.1:n.7564+17G>T
ENST00000265104.4:c.7609+17G>T	ENSP00000265104.4:n.7609+17G>T
ENST00000512443.1:n.465+17G>T
NM_001369.2:c.7609+17G>T	NP_001360.1:n.7609+17G>T
XM_005248262.2:c.7564+17G>T	XP_005248319.1:n.7564+17G>T
XM_011513990.1:c.7609+17G>T	XP_011512292.1:n.7609+17G>T
XR_925598.1:n.7816+17G>T
XM_005248262.3:c.7717+17G>T	XP_005248319.2:n.7717+17G>T
XM_017009177.1:c.7717+17G>T	XP_016864666.1:n.7717+17G>T
XM_017009178.1:c.6622+17G>T	XP_016864667.1:n.6622+17G>T
XM_017009179.2:c.6622+17G>T	XP_016864668.1:n.6622+17G>T
XM_017009180.1:c.7717+17G>T	XP_016864669.1:n.7717+17G>T
XM_017009181.1:c.7717+17G>T	XP_016864670.1:n.7717+17G>T
XM_017009182.1:c.7717+17G>T	XP_016864671.1:n.7717+17G>T
XM_017009183.1:c.7717+17G>T	XP_016864672.1:n.7717+17G>T
XM_017009184.1:c.7717+17G>T	XP_016864673.1:n.7717+17G>T
XM_017009185.1:c.2806+17G>T	XP_016864674.1:n.2806+17G>T
XM_017009186.1:c.2359+17G>T	XP_016864675.1:n.2359+17G>T
XM_017009187.1:c.7717+17G>T	XP_016864676.1:n.7717+17G>T
XM_017009188.1:c.1696+17G>T	XP_016864677.1:n.1696+17G>T
XM_024454388.1:c.6622+17G>T	XP_024310156.1:n.6622+17G>T
XM_024454389.1:c.6211+17G>T	XP_024310157.1:n.6211+17G>T
XR_001742034.1:n.7734+17G>T
XR_001742035.1:n.7734+17G>T
NM_001369.3:c.7609+17G>T MANE Select	NP_001360.1:n.7609+17G>T