Canonical Allele Identifier: CA359191580

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13882726A>C , CM000667.2:g.13882726A>C	GRCh38
NC_000005.9:g.13882835A>C , CM000667.1:g.13882835A>C	GRCh37
NC_000005.8:g.13935835A>C	NCBI36
NG_013081.1:g.66755T>G
NG_013081.2:g.66755T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.3262+2T>G MANE Select	NP_001360.1:n.3262+2T>G
ENST00000265104.5:c.3262+2T>G MANE Select	ENSP00000265104.4:n.3262+2T>G
NM_001369.2:c.3262+2T>G	NP_001360.1:n.3262+2T>G
ENST00000265104.4:c.3262+2T>G	ENSP00000265104.4:n.3262+2T>G
ENST00000681290.1:c.3217+2T>G	ENSP00000505288.1:n.3217+2T>G
XM_005248262.2:c.3217+2T>G	XP_005248319.1:n.3217+2T>G
XM_005248262.3:c.3370+2T>G	XP_005248319.2:n.3370+2T>G
XM_011513990.1:c.3262+2T>G	XP_011512292.1:n.3262+2T>G
XM_017009177.1:c.3370+2T>G	XP_016864666.1:n.3370+2T>G
XM_017009178.1:c.2275+2T>G	XP_016864667.1:n.2275+2T>G
XM_017009179.2:c.2275+2T>G	XP_016864668.1:n.2275+2T>G
XM_017009180.1:c.3370+2T>G	XP_016864669.1:n.3370+2T>G
XM_017009181.1:c.3370+2T>G	XP_016864670.1:n.3370+2T>G
XM_017009182.1:c.3370+2T>G	XP_016864671.1:n.3370+2T>G
XM_017009183.1:c.3370+2T>G	XP_016864672.1:n.3370+2T>G
XM_017009184.1:c.3370+2T>G	XP_016864673.1:n.3370+2T>G
XM_017009187.1:c.3370+2T>G	XP_016864676.1:n.3370+2T>G
XM_024454388.1:c.2275+2T>G	XP_024310156.1:n.2275+2T>G
XM_024454389.1:c.1864+2T>G	XP_024310157.1:n.1864+2T>G
XR_001742034.1:n.3387+2T>G
XR_001742035.1:n.3387+2T>G
XR_925598.1:n.3469+2T>G