Canonical Allele Identifier: CA2673280792

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13919040-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919040G>A , CM000667.2:g.13919040G>A	GRCh38
NC_000005.9:g.13919149G>A , CM000667.1:g.13919149G>A	GRCh37
NC_000005.8:g.13972149G>A	NCBI36
NG_013081.1:g.30441C>T
NG_013081.2:g.30441C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.1031+136C>T
ENST00000682376.1:n.1155C>T
ENST00000682586.1:n.1204C>T
ENST00000683011.1:n.914+136C>T
ENST00000683967.1:n.1074+136C>T
ENST00000684013.1:n.1074+136C>T
ENST00000684099.1:n.1070+136C>T
ENST00000265104.5:c.975+136C>T MANE Select	ENSP00000265104.4:n.975+136C>T
ENST00000680213.1:c.735+136C>T	ENSP00000506622.1:n.735+136C>T
ENST00000681290.1:c.930+136C>T	ENSP00000505288.1:n.930+136C>T
ENST00000265104.4:c.975+136C>T	ENSP00000265104.4:n.975+136C>T
ENST00000508040.1:n.1383+136C>T
NM_001369.2:c.975+136C>T	NP_001360.1:n.975+136C>T
XM_005248262.2:c.930+136C>T	XP_005248319.1:n.930+136C>T
XM_011513990.1:c.975+136C>T	XP_011512292.1:n.975+136C>T
XR_925598.1:n.1182+136C>T
XM_005248262.3:c.1083+136C>T	XP_005248319.2:n.1083+136C>T
XM_017009177.1:c.1083+136C>T	XP_016864666.1:n.1083+136C>T
XM_017009178.1:c.-13+136C>T	XP_016864667.1:n.-13+136C>T
XM_017009179.2:c.-80C>T	XP_016864668.1:n.-80C>T
XM_017009180.1:c.1083+136C>T	XP_016864669.1:n.1083+136C>T
XM_017009181.1:c.1083+136C>T	XP_016864670.1:n.1083+136C>T
XM_017009182.1:c.1083+136C>T	XP_016864671.1:n.1083+136C>T
XM_017009183.1:c.1083+136C>T	XP_016864672.1:n.1083+136C>T
XM_017009184.1:c.1083+136C>T	XP_016864673.1:n.1083+136C>T
XM_017009187.1:c.1083+136C>T	XP_016864676.1:n.1083+136C>T
XM_024454388.1:c.-1796C>T	XP_024310156.1:n.-1796C>T
XM_024454389.1:c.-985+136C>T	XP_024310157.1:n.-985+136C>T
XR_001742034.1:n.1100+136C>T
XR_001742035.1:n.1100+136C>T
NM_001369.3:c.975+136C>T MANE Select	NP_001360.1:n.975+136C>T