Canonical Allele Identifier: CA3204736

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 238966
• ClinVar RCV Id: RCV000231004 ; RCV001154229
• dbSNP Id: rs549164618
• ExAC: 5:13901583 C / T
• gnomAD v2: 5-13901583-C-T
• gnomAD v3: 5-13901474-C-T
• gnomAD v4: 5-13901474-C-T
• MyVariant Identifiers: chr5:g.13901583C>T (hg19) ; chr5:g.13901474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901474C>T , CM000667.2:g.13901474C>T	GRCh38
NC_000005.9:g.13901583C>T , CM000667.1:g.13901583C>T	GRCh37
NC_000005.8:g.13954583C>T	NCBI36
NG_013081.1:g.48007G>A
NG_013081.2:g.48007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.1830G>A MANE Select	ENSP00000265104.4:p.Gln610=
ENST00000681290.1:c.1785G>A	ENSP00000505288.1:p.Gln595=
ENST00000265104.4:c.1830G>A	ENSP00000265104.4:p.Gln610=
NM_001369.2:c.1830G>A	NP_001360.1:p.Gln610=
XM_005248262.2:c.1785G>A	XP_005248319.1:p.Gln595=
XM_011513990.1:c.1830G>A	XP_011512292.1:p.Gln610=
XR_925598.1:n.2037G>A
XM_005248262.3:c.1938G>A	XP_005248319.2:p.Gln646=
XM_017009177.1:c.1938G>A	XP_016864666.1:p.Gln646=
XM_017009178.1:c.843G>A	XP_016864667.1:p.Gln281=
XM_017009179.2:c.843G>A	XP_016864668.1:p.Gln281=
XM_017009180.1:c.1938G>A	XP_016864669.1:p.Gln646=
XM_017009181.1:c.1938G>A	XP_016864670.1:p.Gln646=
XM_017009182.1:c.1938G>A	XP_016864671.1:p.Gln646=
XM_017009183.1:c.1938G>A	XP_016864672.1:p.Gln646=
XM_017009184.1:c.1938G>A	XP_016864673.1:p.Gln646=
XM_017009187.1:c.1938G>A	XP_016864676.1:p.Gln646=
XM_024454388.1:c.843G>A	XP_024310156.1:p.Gln281=
XM_024454389.1:c.432G>A	XP_024310157.1:p.Gln144=
XR_001742034.1:n.1955G>A
XR_001742035.1:n.1955G>A
NM_001369.3:c.1830G>A MANE Select	NP_001360.1:p.Gln610=