Canonical Allele Identifier: CA557875560

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13920625G>A , CM000667.2:g.13920625G>A	GRCh38
NC_000005.9:g.13920734G>A , CM000667.1:g.13920734G>A	GRCh37
NC_000005.8:g.13973734G>A	NCBI36
NG_013081.1:g.28856C>T
NG_013081.2:g.28856C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.661-8C>T MANE Select	NP_001360.1:n.661-8C>T
ENST00000265104.5:c.661-8C>T MANE Select	ENSP00000265104.4:n.661-8C>T
NM_001369.2:c.661-8C>T	NP_001360.1:n.661-8C>T
ENST00000265104.4:c.661-8C>T	ENSP00000265104.4:n.661-8C>T
ENST00000508040.1:n.1020-8C>T
ENST00000680213.1:c.421-8C>T	ENSP00000506622.1:n.421-8C>T
ENST00000680213.2:n.717-8C>T
ENST00000681290.1:c.616-8C>T	ENSP00000505288.1:n.616-8C>T
ENST00000682376.1:n.705-8C>T
ENST00000682586.1:n.705-8C>T
ENST00000683011.1:n.600-8C>T
ENST00000683967.1:n.711-8C>T
ENST00000684013.1:n.711-8C>T
ENST00000684099.1:n.756-8C>T
XM_005248262.2:c.616-8C>T	XP_005248319.1:n.616-8C>T
XM_005248262.3:c.769-8C>T	XP_005248319.2:n.769-8C>T
XM_011513990.1:c.661-8C>T	XP_011512292.1:n.661-8C>T
XM_017009177.1:c.769-8C>T	XP_016864666.1:n.769-8C>T
XM_017009178.1:c.-376-8C>T	XP_016864667.1:n.-376-8C>T
XM_017009180.1:c.769-8C>T	XP_016864669.1:n.769-8C>T
XM_017009181.1:c.769-8C>T	XP_016864670.1:n.769-8C>T
XM_017009182.1:c.769-8C>T	XP_016864671.1:n.769-8C>T
XM_017009183.1:c.769-8C>T	XP_016864672.1:n.769-8C>T
XM_017009184.1:c.769-8C>T	XP_016864673.1:n.769-8C>T
XM_017009187.1:c.769-8C>T	XP_016864676.1:n.769-8C>T
XM_024454388.1:c.-2246-8C>T	XP_024310156.1:n.-2246-8C>T
XM_024454389.1:c.-1299-8C>T	XP_024310157.1:n.-1299-8C>T
XR_001742034.1:n.786-8C>T
XR_001742035.1:n.786-8C>T
XR_925598.1:n.868-8C>T