Canonical Allele Identifier: CA359213481

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844836C>A , CM000667.2:g.13844836C>A	GRCh38
NC_000005.9:g.13844945C>A , CM000667.1:g.13844945C>A	GRCh37
NC_000005.8:g.13897945C>A	NCBI36
NG_013081.1:g.104645G>T
NG_013081.2:g.104645G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.5271+1G>T MANE Select	NP_001360.1:n.5271+1G>T
ENST00000265104.5:c.5271+1G>T MANE Select	ENSP00000265104.4:n.5271+1G>T
NM_001369.2:c.5271+1G>T	NP_001360.1:n.5271+1G>T
ENST00000265104.4:c.5271+1G>T	ENSP00000265104.4:n.5271+1G>T
ENST00000681290.1:c.5226+1G>T	ENSP00000505288.1:n.5226+1G>T
XM_005248262.2:c.5226+1G>T	XP_005248319.1:n.5226+1G>T
XM_005248262.3:c.5379+1G>T	XP_005248319.2:n.5379+1G>T
XM_011513990.1:c.5271+1G>T	XP_011512292.1:n.5271+1G>T
XM_017009177.1:c.5379+1G>T	XP_016864666.1:n.5379+1G>T
XM_017009178.1:c.4284+1G>T	XP_016864667.1:n.4284+1G>T
XM_017009179.2:c.4284+1G>T	XP_016864668.1:n.4284+1G>T
XM_017009180.1:c.5379+1G>T	XP_016864669.1:n.5379+1G>T
XM_017009181.1:c.5379+1G>T	XP_016864670.1:n.5379+1G>T
XM_017009182.1:c.5379+1G>T	XP_016864671.1:n.5379+1G>T
XM_017009183.1:c.5379+1G>T	XP_016864672.1:n.5379+1G>T
XM_017009184.1:c.5379+1G>T	XP_016864673.1:n.5379+1G>T
XM_017009185.1:c.468+1G>T	XP_016864674.1:n.468+1G>T
XM_017009186.1:c.22-2932G>T	XP_016864675.1:n.22-2932G>T
XM_017009187.1:c.5379+1G>T	XP_016864676.1:n.5379+1G>T
XM_024454388.1:c.4284+1G>T	XP_024310156.1:n.4284+1G>T
XM_024454389.1:c.3873+1G>T	XP_024310157.1:n.3873+1G>T
XR_001742034.1:n.5396+1G>T
XR_001742035.1:n.5396+1G>T
XR_925598.1:n.5478+1G>T