Canonical Allele Identifier: CA804569818

Gene: DNAH5

Linked Data

• dbSNP Id: rs1332220525
• gnomAD v3: 5-13919050-G-T
• gnomAD v4: 5-13919050-G-T
• MyVariant Identifiers: chr5:g.13919159G>T (hg19) ; chr5:g.13919050G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919050G>T , CM000667.2:g.13919050G>T	GRCh38
NC_000005.9:g.13919159G>T , CM000667.1:g.13919159G>T	GRCh37
NC_000005.8:g.13972159G>T	NCBI36
NG_013081.1:g.30431C>A
NG_013081.2:g.30431C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1031+126C>A
ENST00000682376.1:n.1145C>A
ENST00000682586.1:n.1194C>A
ENST00000683011.1:n.914+126C>A
ENST00000683967.1:n.1074+126C>A
ENST00000684013.1:n.1074+126C>A
ENST00000684099.1:n.1070+126C>A
ENST00000265104.5:c.975+126C>A MANE Select	ENSP00000265104.4:n.975+126C>A
ENST00000680213.1:c.735+126C>A	ENSP00000506622.1:n.735+126C>A
ENST00000681290.1:c.930+126C>A	ENSP00000505288.1:n.930+126C>A
ENST00000265104.4:c.975+126C>A	ENSP00000265104.4:n.975+126C>A
ENST00000508040.1:n.1383+126C>A
NM_001369.2:c.975+126C>A	NP_001360.1:n.975+126C>A
XM_005248262.2:c.930+126C>A	XP_005248319.1:n.930+126C>A
XM_011513990.1:c.975+126C>A	XP_011512292.1:n.975+126C>A
XR_925598.1:n.1182+126C>A
XM_005248262.3:c.1083+126C>A	XP_005248319.2:n.1083+126C>A
XM_017009177.1:c.1083+126C>A	XP_016864666.1:n.1083+126C>A
XM_017009178.1:c.-13+126C>A	XP_016864667.1:n.-13+126C>A
XM_017009179.2:c.-90C>A	XP_016864668.1:n.-90C>A
XM_017009180.1:c.1083+126C>A	XP_016864669.1:n.1083+126C>A
XM_017009181.1:c.1083+126C>A	XP_016864670.1:n.1083+126C>A
XM_017009182.1:c.1083+126C>A	XP_016864671.1:n.1083+126C>A
XM_017009183.1:c.1083+126C>A	XP_016864672.1:n.1083+126C>A
XM_017009184.1:c.1083+126C>A	XP_016864673.1:n.1083+126C>A
XM_017009187.1:c.1083+126C>A	XP_016864676.1:n.1083+126C>A
XM_024454388.1:c.-1806C>A	XP_024310156.1:n.-1806C>A
XM_024454389.1:c.-985+126C>A	XP_024310157.1:n.-985+126C>A
XR_001742034.1:n.1100+126C>A
XR_001742035.1:n.1100+126C>A
NM_001369.3:c.975+126C>A MANE Select	NP_001360.1:n.975+126C>A