Canonical Allele Identifier: CA3204814

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13911503T>A , CM000667.2:g.13911503T>A	GRCh38
NC_000005.9:g.13911612T>A , CM000667.1:g.13911612T>A	GRCh37
NC_000005.8:g.13964612T>A	NCBI36
NG_013081.1:g.37978A>T
NG_013081.2:g.37978A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1537-10A>T MANE Select	NP_001360.1:n.1537-10A>T
ENST00000265104.5:c.1537-10A>T MANE Select	ENSP00000265104.4:n.1537-10A>T
NM_001369.2:c.1537-10A>T	NP_001360.1:n.1537-10A>T
ENST00000265104.4:c.1537-10A>T	ENSP00000265104.4:n.1537-10A>T
ENST00000508040.1:n.1945-10A>T
ENST00000680213.1:c.1297-10A>T	ENSP00000506622.1:n.1297-10A>T
ENST00000680213.2:n.1593-10A>T
ENST00000681290.1:c.1492-10A>T	ENSP00000505288.1:n.1492-10A>T
ENST00000683011.1:n.1476-10A>T
ENST00000683967.1:n.3902-10A>T
ENST00000684013.1:n.2197-10A>T
ENST00000684099.1:n.2193-10A>T
XM_005248262.2:c.1492-10A>T	XP_005248319.1:n.1492-10A>T
XM_005248262.3:c.1645-10A>T	XP_005248319.2:n.1645-10A>T
XM_011513990.1:c.1537-10A>T	XP_011512292.1:n.1537-10A>T
XM_017009177.1:c.1645-10A>T	XP_016864666.1:n.1645-10A>T
XM_017009178.1:c.550-10A>T	XP_016864667.1:n.550-10A>T
XM_017009179.2:c.550-10A>T	XP_016864668.1:n.550-10A>T
XM_017009180.1:c.1645-10A>T	XP_016864669.1:n.1645-10A>T
XM_017009181.1:c.1645-10A>T	XP_016864670.1:n.1645-10A>T
XM_017009182.1:c.1645-10A>T	XP_016864671.1:n.1645-10A>T
XM_017009183.1:c.1645-10A>T	XP_016864672.1:n.1645-10A>T
XM_017009184.1:c.1645-10A>T	XP_016864673.1:n.1645-10A>T
XM_017009187.1:c.1645-10A>T	XP_016864676.1:n.1645-10A>T
XM_024454388.1:c.550-10A>T	XP_024310156.1:n.550-10A>T
XM_024454389.1:c.139-10A>T	XP_024310157.1:n.139-10A>T
XR_001742034.1:n.1662-10A>T
XR_001742035.1:n.1662-10A>T
XR_925598.1:n.1744-10A>T