Canonical Allele Identifier: CA261198

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 39651
• ClinVar RCV Id: RCV000032855 ; RCV000228082 ; RCV000523858
• dbSNP Id: rs147499872
• ExAC: 5:13916533 A / G
• gnomAD v2: 5-13916533-A-G
• gnomAD v3: 5-13916424-A-G
• gnomAD v4: 5-13916424-A-G
• MyVariant Identifiers: chr5:g.13916533A>G (hg19) ; chr5:g.13916424A>G (hg38)
• PubMed: PMID:23261302

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13916424A>G , CM000667.2:g.13916424A>G	GRCh38
NC_000005.9:g.13916533A>G , CM000667.1:g.13916533A>G	GRCh37
NC_000005.8:g.13969533A>G	NCBI36
NG_013081.1:g.33057T>C
NG_013081.2:g.33057T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1177T>C
ENST00000682376.1:n.3084T>C
ENST00000683011.1:n.1060T>C
ENST00000683967.1:n.1220T>C
ENST00000684013.1:n.1220T>C
ENST00000684099.1:n.1216T>C
ENST00000265104.5:c.1121T>C MANE Select	ENSP00000265104.4:p.Ile374Thr
ENST00000680213.1:c.881T>C	ENSP00000506622.1:p.Ile294Thr
ENST00000681290.1:c.1076T>C	ENSP00000505288.1:p.Ile359Thr
ENST00000265104.4:c.1121T>C	ENSP00000265104.4:p.Ile374Thr
ENST00000508040.1:n.1529T>C
NM_001369.2:c.1121T>C	NP_001360.1:p.Ile374Thr
XM_005248262.2:c.1076T>C	XP_005248319.1:p.Ile359Thr
XM_011513990.1:c.1121T>C	XP_011512292.1:p.Ile374Thr
XR_925598.1:n.1328T>C
XM_005248262.3:c.1229T>C	XP_005248319.2:p.Ile410Thr
XM_017009177.1:c.1229T>C	XP_016864666.1:p.Ile410Thr
XM_017009178.1:c.134T>C	XP_016864667.1:p.Ile45Thr
XM_017009179.2:c.134T>C	XP_016864668.1:p.Ile45Thr
XM_017009180.1:c.1229T>C	XP_016864669.1:p.Ile410Thr
XM_017009181.1:c.1229T>C	XP_016864670.1:p.Ile410Thr
XM_017009182.1:c.1229T>C	XP_016864671.1:p.Ile410Thr
XM_017009183.1:c.1229T>C	XP_016864672.1:p.Ile410Thr
XM_017009184.1:c.1229T>C	XP_016864673.1:p.Ile410Thr
XM_017009187.1:c.1229T>C	XP_016864676.1:p.Ile410Thr
XM_024454388.1:c.134T>C	XP_024310156.1:p.Ile45Thr
XM_024454389.1:c.-839T>C	XP_024310157.1:n.-839T>C
XR_001742034.1:n.1246T>C
XR_001742035.1:n.1246T>C
NM_001369.3:c.1121T>C MANE Select	NP_001360.1:p.Ile374Thr