Canonical Allele Identifier: CA1073402313

Gene: DNAH5

Linked Data

• dbSNP Id: rs1773127941
• gnomAD v3: 5-13890882-G-GA
• gnomAD v4: 5-13890882-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13890889dup , CM000667.2:g.13890889dup	GRCh38
NC_000005.9:g.13890998dup , CM000667.1:g.13890998dup	GRCh37
NC_000005.8:g.13943998dup	NCBI36
NG_013081.1:g.58598dup
NG_013081.2:g.58598dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2577+93dup MANE Select	ENSP00000265104.4:n.2577+93dup
ENST00000681290.1:c.2532+93dup	ENSP00000505288.1:n.2532+93dup
ENST00000265104.4:c.2577+93dup	ENSP00000265104.4:n.2577+93dup
NM_001369.2:c.2577+93dup	NP_001360.1:n.2577+93dup
XM_005248262.2:c.2532+93dup	XP_005248319.1:n.2532+93dup
XM_011513990.1:c.2577+93dup	XP_011512292.1:n.2577+93dup
XR_925598.1:n.2784+93dup
XM_005248262.3:c.2685+93dup	XP_005248319.2:n.2685+93dup
XM_017009177.1:c.2685+93dup	XP_016864666.1:n.2685+93dup
XM_017009178.1:c.1590+93dup	XP_016864667.1:n.1590+93dup
XM_017009179.2:c.1590+93dup	XP_016864668.1:n.1590+93dup
XM_017009180.1:c.2685+93dup	XP_016864669.1:n.2685+93dup
XM_017009181.1:c.2685+93dup	XP_016864670.1:n.2685+93dup
XM_017009182.1:c.2685+93dup	XP_016864671.1:n.2685+93dup
XM_017009183.1:c.2685+93dup	XP_016864672.1:n.2685+93dup
XM_017009184.1:c.2685+93dup	XP_016864673.1:n.2685+93dup
XM_017009187.1:c.2685+93dup	XP_016864676.1:n.2685+93dup
XM_024454388.1:c.1590+93dup	XP_024310156.1:n.1590+93dup
XM_024454389.1:c.1179+93dup	XP_024310157.1:n.1179+93dup
XR_001742034.1:n.2702+93dup
XR_001742035.1:n.2702+93dup
NM_001369.3:c.2577+93dup MANE Select	NP_001360.1:n.2577+93dup