Canonical Allele Identifier: CA175792

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 163148
• ClinVar RCV Id: RCV000150479 ; RCV002516023
• dbSNP Id: rs372860402
• ExAC: 5:13841250 T / C
• gnomAD v2: 5-13841250-T-C
• gnomAD v3: 5-13841141-T-C
• gnomAD v4: 5-13841141-T-C
• MyVariant Identifiers: chr5:g.13841250T>C (hg19) ; chr5:g.13841250_13841251delinsCA (hg19) ; chr5:g.13841141T>C (hg38) ; chr5:g.13841141_13841142delinsCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841141T>C , CM000667.2:g.13841141T>C	GRCh38
NC_000005.9:g.13841250T>C , CM000667.1:g.13841250T>C	GRCh37
NC_000005.8:g.13894250T>C	NCBI36
NG_013081.1:g.108340A>G
NG_013081.2:g.108340A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5485-11A>G MANE Select	ENSP00000265104.4:n.5485-11A>G
ENST00000681290.1:c.5440-11A>G	ENSP00000505288.1:n.5440-11A>G
ENST00000265104.4:c.5485-11A>G	ENSP00000265104.4:n.5485-11A>G
NM_001369.2:c.5485-11A>G	NP_001360.1:n.5485-11A>G
XM_005248262.2:c.5440-11A>G	XP_005248319.1:n.5440-11A>G
XM_011513990.1:c.5485-11A>G	XP_011512292.1:n.5485-11A>G
XR_925598.1:n.5692-11A>G
XM_005248262.3:c.5593-11A>G	XP_005248319.2:n.5593-11A>G
XM_017009177.1:c.5593-11A>G	XP_016864666.1:n.5593-11A>G
XM_017009178.1:c.4498-11A>G	XP_016864667.1:n.4498-11A>G
XM_017009179.2:c.4498-11A>G	XP_016864668.1:n.4498-11A>G
XM_017009180.1:c.5593-11A>G	XP_016864669.1:n.5593-11A>G
XM_017009181.1:c.5593-11A>G	XP_016864670.1:n.5593-11A>G
XM_017009182.1:c.5593-11A>G	XP_016864671.1:n.5593-11A>G
XM_017009183.1:c.5593-11A>G	XP_016864672.1:n.5593-11A>G
XM_017009184.1:c.5593-11A>G	XP_016864673.1:n.5593-11A>G
XM_017009185.1:c.682-11A>G	XP_016864674.1:n.682-11A>G
XM_017009186.1:c.235-11A>G	XP_016864675.1:n.235-11A>G
XM_017009187.1:c.5593-11A>G	XP_016864676.1:n.5593-11A>G
XM_024454388.1:c.4498-11A>G	XP_024310156.1:n.4498-11A>G
XM_024454389.1:c.4087-11A>G	XP_024310157.1:n.4087-11A>G
XR_001742034.1:n.5610-11A>G
XR_001742035.1:n.5610-11A>G
NM_001369.3:c.5485-11A>G MANE Select	NP_001360.1:n.5485-11A>G