Canonical Allele Identifier: CA359200505

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829706T>C , CM000667.2:g.13829706T>C	GRCh38
NC_000005.9:g.13829815T>C , CM000667.1:g.13829815T>C	GRCh37
NC_000005.8:g.13882815T>C	NCBI36
NG_013081.1:g.119775A>G
NG_013081.2:g.119775A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.6250-2A>G MANE Select	NP_001360.1:n.6250-2A>G
ENST00000265104.5:c.6250-2A>G MANE Select	ENSP00000265104.4:n.6250-2A>G
NM_001369.2:c.6250-2A>G	NP_001360.1:n.6250-2A>G
ENST00000265104.4:c.6250-2A>G	ENSP00000265104.4:n.6250-2A>G
ENST00000681290.1:c.6205-2A>G	ENSP00000505288.1:n.6205-2A>G
ENST00000683090.1:n.1181-2A>G
XM_005248262.2:c.6205-2A>G	XP_005248319.1:n.6205-2A>G
XM_005248262.3:c.6358-2A>G	XP_005248319.2:n.6358-2A>G
XM_011513990.1:c.6250-2A>G	XP_011512292.1:n.6250-2A>G
XM_017009177.1:c.6358-2A>G	XP_016864666.1:n.6358-2A>G
XM_017009178.1:c.5263-2A>G	XP_016864667.1:n.5263-2A>G
XM_017009179.2:c.5263-2A>G	XP_016864668.1:n.5263-2A>G
XM_017009180.1:c.6358-2A>G	XP_016864669.1:n.6358-2A>G
XM_017009181.1:c.6358-2A>G	XP_016864670.1:n.6358-2A>G
XM_017009182.1:c.6358-2A>G	XP_016864671.1:n.6358-2A>G
XM_017009183.1:c.6358-2A>G	XP_016864672.1:n.6358-2A>G
XM_017009184.1:c.6358-2A>G	XP_016864673.1:n.6358-2A>G
XM_017009185.1:c.1447-2A>G	XP_016864674.1:n.1447-2A>G
XM_017009186.1:c.1000-2A>G	XP_016864675.1:n.1000-2A>G
XM_017009187.1:c.6358-2A>G	XP_016864676.1:n.6358-2A>G
XM_017009188.1:c.337-2A>G	XP_016864677.1:n.337-2A>G
XM_024454388.1:c.5263-2A>G	XP_024310156.1:n.5263-2A>G
XM_024454389.1:c.4852-2A>G	XP_024310157.1:n.4852-2A>G
XR_001742034.1:n.6375-2A>G
XR_001742035.1:n.6375-2A>G
XR_925598.1:n.6457-2A>G