Canonical Allele Identifier: CA2578270494

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13830557-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830557G>T , CM000667.2:g.13830557G>T	GRCh38
NC_000005.9:g.13830666G>T , CM000667.1:g.13830666G>T	GRCh37
NC_000005.8:g.13883666G>T	NCBI36
NG_013081.1:g.118924C>A
NG_013081.2:g.118924C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.992+40C>A
ENST00000265104.5:c.6061+40C>A MANE Select	ENSP00000265104.4:n.6061+40C>A
ENST00000681290.1:c.6016+40C>A	ENSP00000505288.1:n.6016+40C>A
ENST00000265104.4:c.6061+40C>A	ENSP00000265104.4:n.6061+40C>A
NM_001369.2:c.6061+40C>A	NP_001360.1:n.6061+40C>A
XM_005248262.2:c.6016+40C>A	XP_005248319.1:n.6016+40C>A
XM_011513990.1:c.6061+40C>A	XP_011512292.1:n.6061+40C>A
XR_925598.1:n.6268+40C>A
XM_005248262.3:c.6169+40C>A	XP_005248319.2:n.6169+40C>A
XM_017009177.1:c.6169+40C>A	XP_016864666.1:n.6169+40C>A
XM_017009178.1:c.5074+40C>A	XP_016864667.1:n.5074+40C>A
XM_017009179.2:c.5074+40C>A	XP_016864668.1:n.5074+40C>A
XM_017009180.1:c.6169+40C>A	XP_016864669.1:n.6169+40C>A
XM_017009181.1:c.6169+40C>A	XP_016864670.1:n.6169+40C>A
XM_017009182.1:c.6169+40C>A	XP_016864671.1:n.6169+40C>A
XM_017009183.1:c.6169+40C>A	XP_016864672.1:n.6169+40C>A
XM_017009184.1:c.6169+40C>A	XP_016864673.1:n.6169+40C>A
XM_017009185.1:c.1258+40C>A	XP_016864674.1:n.1258+40C>A
XM_017009186.1:c.811+40C>A	XP_016864675.1:n.811+40C>A
XM_017009187.1:c.6169+40C>A	XP_016864676.1:n.6169+40C>A
XM_017009188.1:c.148+40C>A	XP_016864677.1:n.148+40C>A
XM_024454388.1:c.5074+40C>A	XP_024310156.1:n.5074+40C>A
XM_024454389.1:c.4663+40C>A	XP_024310157.1:n.4663+40C>A
XR_001742034.1:n.6186+40C>A
XR_001742035.1:n.6186+40C>A
NM_001369.3:c.6061+40C>A MANE Select	NP_001360.1:n.6061+40C>A