Canonical Allele Identifier: CA3202173

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1123854
• ClinVar RCV Id: RCV001455012
• dbSNP Id: rs765951022
• ExAC: 5:13753630 T / C
• gnomAD v2: 5-13753630-T-C
• gnomAD v3: 5-13753521-T-C
• gnomAD v4: 5-13753521-T-C
• MyVariant Identifiers: chr5:g.13753630T>C (hg19) ; chr5:g.13753521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753521T>C , CM000667.2:g.13753521T>C	GRCh38
NC_000005.9:g.13753630T>C , CM000667.1:g.13753630T>C	GRCh37
NC_000005.8:g.13806630T>C	NCBI36
NG_013081.1:g.195960A>G
NG_013081.2:g.195960A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10584A>G MANE Select	ENSP00000265104.4:p.Leu3528=
ENST00000681290.1:c.10539A>G	ENSP00000505288.1:p.Leu3513=
ENST00000265104.4:c.10584A>G	ENSP00000265104.4:p.Leu3528=
NM_001369.2:c.10584A>G	NP_001360.1:p.Leu3528=
XM_005248262.2:c.10539A>G	XP_005248319.1:p.Leu3513=
XM_005248262.3:c.10692A>G	XP_005248319.2:p.Leu3564=
XM_017009177.1:c.10692A>G	XP_016864666.1:p.Leu3564=
XM_017009178.1:c.9597A>G	XP_016864667.1:p.Leu3199=
XM_017009179.2:c.9597A>G	XP_016864668.1:p.Leu3199=
XM_017009180.1:c.10692A>G	XP_016864669.1:p.Leu3564=
XM_017009181.1:c.10692A>G	XP_016864670.1:p.Leu3564=
XM_017009182.1:c.10692A>G	XP_016864671.1:p.Leu3564=
XM_017009185.1:c.5781A>G	XP_016864674.1:p.Leu1927=
XM_017009186.1:c.5334A>G	XP_016864675.1:p.Leu1778=
XM_017009188.1:c.4671A>G	XP_016864677.1:p.Leu1557=
XM_024454388.1:c.9597A>G	XP_024310156.1:p.Leu3199=
XM_024454389.1:c.9186A>G	XP_024310157.1:p.Leu3062=
NM_001369.3:c.10584A>G MANE Select	NP_001360.1:p.Leu3528=