Canonical Allele Identifier: CA3203684

Gene: DNAH5

Linked Data

• dbSNP Id: rs769398880
• ExAC: 5:13841873 A / C
• gnomAD v2: 5-13841873-A-C
• gnomAD v4: 5-13841764-A-C
• MyVariant Identifiers: chr5:g.13841873A>C (hg19) ; chr5:g.13841764A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841764A>C , CM000667.2:g.13841764A>C	GRCh38
NC_000005.9:g.13841873A>C , CM000667.1:g.13841873A>C	GRCh37
NC_000005.8:g.13894873A>C	NCBI36
NG_013081.1:g.107717T>G
NG_013081.2:g.107717T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.5412T>G MANE Select	ENSP00000265104.4:p.Ile1804Met
ENST00000681290.1:c.5367T>G	ENSP00000505288.1:p.Ile1789Met
ENST00000265104.4:c.5412T>G	ENSP00000265104.4:p.Ile1804Met
NM_001369.2:c.5412T>G	NP_001360.1:p.Ile1804Met
XM_005248262.2:c.5367T>G	XP_005248319.1:p.Ile1789Met
XM_011513990.1:c.5412T>G	XP_011512292.1:p.Ile1804Met
XR_925598.1:n.5619T>G
XM_005248262.3:c.5520T>G	XP_005248319.2:p.Ile1840Met
XM_017009177.1:c.5520T>G	XP_016864666.1:p.Ile1840Met
XM_017009178.1:c.4425T>G	XP_016864667.1:p.Ile1475Met
XM_017009179.2:c.4425T>G	XP_016864668.1:p.Ile1475Met
XM_017009180.1:c.5520T>G	XP_016864669.1:p.Ile1840Met
XM_017009181.1:c.5520T>G	XP_016864670.1:p.Ile1840Met
XM_017009182.1:c.5520T>G	XP_016864671.1:p.Ile1840Met
XM_017009183.1:c.5520T>G	XP_016864672.1:p.Ile1840Met
XM_017009184.1:c.5520T>G	XP_016864673.1:p.Ile1840Met
XM_017009185.1:c.609T>G	XP_016864674.1:p.Ile203Met
XM_017009186.1:c.162T>G	XP_016864675.1:p.Ile54Met
XM_017009187.1:c.5520T>G	XP_016864676.1:p.Ile1840Met
XM_024454388.1:c.4425T>G	XP_024310156.1:p.Ile1475Met
XM_024454389.1:c.4014T>G	XP_024310157.1:p.Ile1338Met
XR_001742034.1:n.5537T>G
XR_001742035.1:n.5537T>G
NM_001369.3:c.5412T>G MANE Select	NP_001360.1:p.Ile1804Met