Canonical Allele Identifier: CA2673280796

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13919043-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919043G>T , CM000667.2:g.13919043G>T	GRCh38
NC_000005.9:g.13919152G>T , CM000667.1:g.13919152G>T	GRCh37
NC_000005.8:g.13972152G>T	NCBI36
NG_013081.1:g.30438C>A
NG_013081.2:g.30438C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.1031+133C>A
ENST00000682376.1:n.1152C>A
ENST00000682586.1:n.1201C>A
ENST00000683011.1:n.914+133C>A
ENST00000683967.1:n.1074+133C>A
ENST00000684013.1:n.1074+133C>A
ENST00000684099.1:n.1070+133C>A
ENST00000265104.5:c.975+133C>A MANE Select	ENSP00000265104.4:n.975+133C>A
ENST00000680213.1:c.735+133C>A	ENSP00000506622.1:n.735+133C>A
ENST00000681290.1:c.930+133C>A	ENSP00000505288.1:n.930+133C>A
ENST00000265104.4:c.975+133C>A	ENSP00000265104.4:n.975+133C>A
ENST00000508040.1:n.1383+133C>A
NM_001369.2:c.975+133C>A	NP_001360.1:n.975+133C>A
XM_005248262.2:c.930+133C>A	XP_005248319.1:n.930+133C>A
XM_011513990.1:c.975+133C>A	XP_011512292.1:n.975+133C>A
XR_925598.1:n.1182+133C>A
XM_005248262.3:c.1083+133C>A	XP_005248319.2:n.1083+133C>A
XM_017009177.1:c.1083+133C>A	XP_016864666.1:n.1083+133C>A
XM_017009178.1:c.-13+133C>A	XP_016864667.1:n.-13+133C>A
XM_017009179.2:c.-83C>A	XP_016864668.1:n.-83C>A
XM_017009180.1:c.1083+133C>A	XP_016864669.1:n.1083+133C>A
XM_017009181.1:c.1083+133C>A	XP_016864670.1:n.1083+133C>A
XM_017009182.1:c.1083+133C>A	XP_016864671.1:n.1083+133C>A
XM_017009183.1:c.1083+133C>A	XP_016864672.1:n.1083+133C>A
XM_017009184.1:c.1083+133C>A	XP_016864673.1:n.1083+133C>A
XM_017009187.1:c.1083+133C>A	XP_016864676.1:n.1083+133C>A
XM_024454388.1:c.-1799C>A	XP_024310156.1:n.-1799C>A
XM_024454389.1:c.-985+133C>A	XP_024310157.1:n.-985+133C>A
XR_001742034.1:n.1100+133C>A
XR_001742035.1:n.1100+133C>A
NM_001369.3:c.975+133C>A MANE Select	NP_001360.1:n.975+133C>A