Canonical Allele Identifier: CA3204694

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 971688
• ClinVar RCV Id: RCV001247523
• dbSNP Id: rs142373364
• ExAC: 5:13901365 C / T
• gnomAD v2: 5-13901365-C-T
• gnomAD v3: 5-13901256-C-T
• gnomAD v4: 5-13901256-C-T
• MyVariant Identifiers: chr5:g.13901365C>T (hg19) ; chr5:g.13901256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901256C>T , CM000667.2:g.13901256C>T	GRCh38
NC_000005.9:g.13901365C>T , CM000667.1:g.13901365C>T	GRCh37
NC_000005.8:g.13954365C>T	NCBI36
NG_013081.1:g.48225G>A
NG_013081.2:g.48225G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2048G>A MANE Select	ENSP00000265104.4:p.Arg683Gln
ENST00000681290.1:c.2003G>A	ENSP00000505288.1:p.Arg668Gln
ENST00000265104.4:c.2048G>A	ENSP00000265104.4:p.Arg683Gln
NM_001369.2:c.2048G>A	NP_001360.1:p.Arg683Gln
XM_005248262.2:c.2003G>A	XP_005248319.1:p.Arg668Gln
XM_011513990.1:c.2048G>A	XP_011512292.1:p.Arg683Gln
XR_925598.1:n.2255G>A
XM_005248262.3:c.2156G>A	XP_005248319.2:p.Arg719Gln
XM_017009177.1:c.2156G>A	XP_016864666.1:p.Arg719Gln
XM_017009178.1:c.1061G>A	XP_016864667.1:p.Arg354Gln
XM_017009179.2:c.1061G>A	XP_016864668.1:p.Arg354Gln
XM_017009180.1:c.2156G>A	XP_016864669.1:p.Arg719Gln
XM_017009181.1:c.2156G>A	XP_016864670.1:p.Arg719Gln
XM_017009182.1:c.2156G>A	XP_016864671.1:p.Arg719Gln
XM_017009183.1:c.2156G>A	XP_016864672.1:p.Arg719Gln
XM_017009184.1:c.2156G>A	XP_016864673.1:p.Arg719Gln
XM_017009187.1:c.2156G>A	XP_016864676.1:p.Arg719Gln
XM_024454388.1:c.1061G>A	XP_024310156.1:p.Arg354Gln
XM_024454389.1:c.650G>A	XP_024310157.1:p.Arg217Gln
XR_001742034.1:n.2173G>A
XR_001742035.1:n.2173G>A
NM_001369.3:c.2048G>A MANE Select	NP_001360.1:p.Arg683Gln