Canonical Allele Identifier: CA359214666

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913960T>C , CM000667.2:g.13913960T>C	GRCh38
NC_000005.9:g.13914069T>C , CM000667.1:g.13914069T>C	GRCh37
NC_000005.8:g.13967069T>C	NCBI36
NG_013081.1:g.35521A>G
NG_013081.2:g.35521A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1321-2A>G MANE Select	NP_001360.1:n.1321-2A>G
ENST00000265104.5:c.1321-2A>G MANE Select	ENSP00000265104.4:n.1321-2A>G
NM_001369.2:c.1321-2A>G	NP_001360.1:n.1321-2A>G
ENST00000265104.4:c.1321-2A>G	ENSP00000265104.4:n.1321-2A>G
ENST00000508040.1:n.1729-2A>G
ENST00000680213.1:c.1081-2A>G	ENSP00000506622.1:n.1081-2A>G
ENST00000680213.2:n.1377-2A>G
ENST00000681290.1:c.1276-2A>G	ENSP00000505288.1:n.1276-2A>G
ENST00000682376.1:n.5548A>G
ENST00000683011.1:n.1260-2A>G
ENST00000683967.1:n.3684A>G
ENST00000684013.1:n.1979A>G
ENST00000684099.1:n.1975A>G
XM_005248262.2:c.1276-2A>G	XP_005248319.1:n.1276-2A>G
XM_005248262.3:c.1429-2A>G	XP_005248319.2:n.1429-2A>G
XM_011513990.1:c.1321-2A>G	XP_011512292.1:n.1321-2A>G
XM_017009177.1:c.1429-2A>G	XP_016864666.1:n.1429-2A>G
XM_017009178.1:c.334-2A>G	XP_016864667.1:n.334-2A>G
XM_017009179.2:c.334-2A>G	XP_016864668.1:n.334-2A>G
XM_017009180.1:c.1429-2A>G	XP_016864669.1:n.1429-2A>G
XM_017009181.1:c.1429-2A>G	XP_016864670.1:n.1429-2A>G
XM_017009182.1:c.1429-2A>G	XP_016864671.1:n.1429-2A>G
XM_017009183.1:c.1429-2A>G	XP_016864672.1:n.1429-2A>G
XM_017009184.1:c.1429-2A>G	XP_016864673.1:n.1429-2A>G
XM_017009187.1:c.1429-2A>G	XP_016864676.1:n.1429-2A>G
XM_024454388.1:c.334-2A>G	XP_024310156.1:n.334-2A>G
XM_024454389.1:c.-80A>G	XP_024310157.1:n.-80A>G
XR_001742034.1:n.1446-2A>G
XR_001742035.1:n.1446-2A>G
XR_925598.1:n.1528-2A>G