Canonical Allele Identifier: CA2673280799

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13919046-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919046T>C , CM000667.2:g.13919046T>C	GRCh38
NC_000005.9:g.13919155T>C , CM000667.1:g.13919155T>C	GRCh37
NC_000005.8:g.13972155T>C	NCBI36
NG_013081.1:g.30435A>G
NG_013081.2:g.30435A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.1031+130A>G
ENST00000682376.1:n.1149A>G
ENST00000682586.1:n.1198A>G
ENST00000683011.1:n.914+130A>G
ENST00000683967.1:n.1074+130A>G
ENST00000684013.1:n.1074+130A>G
ENST00000684099.1:n.1070+130A>G
ENST00000265104.5:c.975+130A>G MANE Select	ENSP00000265104.4:n.975+130A>G
ENST00000680213.1:c.735+130A>G	ENSP00000506622.1:n.735+130A>G
ENST00000681290.1:c.930+130A>G	ENSP00000505288.1:n.930+130A>G
ENST00000265104.4:c.975+130A>G	ENSP00000265104.4:n.975+130A>G
ENST00000508040.1:n.1383+130A>G
NM_001369.2:c.975+130A>G	NP_001360.1:n.975+130A>G
XM_005248262.2:c.930+130A>G	XP_005248319.1:n.930+130A>G
XM_011513990.1:c.975+130A>G	XP_011512292.1:n.975+130A>G
XR_925598.1:n.1182+130A>G
XM_005248262.3:c.1083+130A>G	XP_005248319.2:n.1083+130A>G
XM_017009177.1:c.1083+130A>G	XP_016864666.1:n.1083+130A>G
XM_017009178.1:c.-13+130A>G	XP_016864667.1:n.-13+130A>G
XM_017009179.2:c.-86A>G	XP_016864668.1:n.-86A>G
XM_017009180.1:c.1083+130A>G	XP_016864669.1:n.1083+130A>G
XM_017009181.1:c.1083+130A>G	XP_016864670.1:n.1083+130A>G
XM_017009182.1:c.1083+130A>G	XP_016864671.1:n.1083+130A>G
XM_017009183.1:c.1083+130A>G	XP_016864672.1:n.1083+130A>G
XM_017009184.1:c.1083+130A>G	XP_016864673.1:n.1083+130A>G
XM_017009187.1:c.1083+130A>G	XP_016864676.1:n.1083+130A>G
XM_024454388.1:c.-1802A>G	XP_024310156.1:n.-1802A>G
XM_024454389.1:c.-985+130A>G	XP_024310157.1:n.-985+130A>G
XR_001742034.1:n.1100+130A>G
XR_001742035.1:n.1100+130A>G
NM_001369.3:c.975+130A>G MANE Select	NP_001360.1:n.975+130A>G