Canonical Allele Identifier: CA2578269570

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701276G>T , CM000667.2:g.13701276G>T	GRCh38
NC_000005.9:g.13701385G>T , CM000667.1:g.13701385G>T	GRCh37
NC_000005.8:g.13754385G>T	NCBI36
NG_013081.1:g.248205C>A
NG_013081.2:g.248205C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13491+8C>A MANE Select	NP_001360.1:n.13491+8C>A
ENST00000265104.5:c.13491+8C>A MANE Select	ENSP00000265104.4:n.13491+8C>A
NM_001369.2:c.13491+8C>A	NP_001360.1:n.13491+8C>A
ENST00000265104.4:c.13491+8C>A	ENSP00000265104.4:n.13491+8C>A
ENST00000681290.1:c.13446+8C>A	ENSP00000505288.1:n.13446+8C>A
ENST00000683611.1:n.824+8C>A
XM_005248262.2:c.13446+8C>A	XP_005248319.1:n.13446+8C>A
XM_005248262.3:c.13599+8C>A	XP_005248319.2:n.13599+8C>A
XM_017009177.1:c.13179+8C>A	XP_016864666.1:n.13179+8C>A
XM_017009178.1:c.12504+8C>A	XP_016864667.1:n.12504+8C>A
XM_017009179.2:c.12504+8C>A	XP_016864668.1:n.12504+8C>A
XM_017009185.1:c.8688+8C>A	XP_016864674.1:n.8688+8C>A
XM_017009186.1:c.8241+8C>A	XP_016864675.1:n.8241+8C>A
XM_017009188.1:c.7578+8C>A	XP_016864677.1:n.7578+8C>A
XM_024454388.1:c.12504+8C>A	XP_024310156.1:n.12504+8C>A
XM_024454389.1:c.12093+8C>A	XP_024310157.1:n.12093+8C>A