Canonical Allele Identifier: CA10619106

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351063
• ClinVar RCV Id: RCV000368778 ; RCV002061254
• dbSNP Id: rs747529694
• gnomAD v4: 5-13814629-G-T
• MyVariant Identifiers: chr5:g.13814738G>T (hg19) ; chr5:g.13814629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13814629G>T , CM000667.2:g.13814629G>T	GRCh38
NC_000005.9:g.13814738G>T , CM000667.1:g.13814738G>T	GRCh37
NC_000005.8:g.13867738G>T	NCBI36
NG_013081.1:g.134852C>A
NG_013081.2:g.134852C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.7206C>A MANE Select	ENSP00000265104.4:p.Ile2402=
ENST00000681290.1:c.7161C>A	ENSP00000505288.1:p.Ile2387=
ENST00000265104.4:c.7206C>A	ENSP00000265104.4:p.Ile2402=
NM_001369.2:c.7206C>A	NP_001360.1:p.Ile2402=
XM_005248262.2:c.7161C>A	XP_005248319.1:p.Ile2387=
XM_011513990.1:c.7206C>A	XP_011512292.1:p.Ile2402=
XR_925598.1:n.7413C>A
XM_005248262.3:c.7314C>A	XP_005248319.2:p.Ile2438=
XM_017009177.1:c.7314C>A	XP_016864666.1:p.Ile2438=
XM_017009178.1:c.6219C>A	XP_016864667.1:p.Ile2073=
XM_017009179.2:c.6219C>A	XP_016864668.1:p.Ile2073=
XM_017009180.1:c.7314C>A	XP_016864669.1:p.Ile2438=
XM_017009181.1:c.7314C>A	XP_016864670.1:p.Ile2438=
XM_017009182.1:c.7314C>A	XP_016864671.1:p.Ile2438=
XM_017009183.1:c.7314C>A	XP_016864672.1:p.Ile2438=
XM_017009184.1:c.7314C>A	XP_016864673.1:p.Ile2438=
XM_017009185.1:c.2403C>A	XP_016864674.1:p.Ile801=
XM_017009186.1:c.1956C>A	XP_016864675.1:p.Ile652=
XM_017009187.1:c.7314C>A	XP_016864676.1:p.Ile2438=
XM_017009188.1:c.1293C>A	XP_016864677.1:p.Ile431=
XM_024454388.1:c.6219C>A	XP_024310156.1:p.Ile2073=
XM_024454389.1:c.5808C>A	XP_024310157.1:p.Ile1936=
XR_001742034.1:n.7331C>A
XR_001742035.1:n.7331C>A
NM_001369.3:c.7206C>A MANE Select	NP_001360.1:p.Ile2402=