Canonical Allele Identifier: CA3204074

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 906940
• ClinVar RCV Id: RCV001156427 ; RCV002070923
• dbSNP Id: rs201947846
• ExAC: 5:13866314 A / G
• gnomAD v2: 5-13866314-A-G
• gnomAD v3: 5-13866205-A-G
• gnomAD v4: 5-13866205-A-G
• MyVariant Identifiers: chr5:g.13866314A>G (hg19) ; chr5:g.13866205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13866205A>G , CM000667.2:g.13866205A>G	GRCh38
NC_000005.9:g.13866314A>G , CM000667.1:g.13866314A>G	GRCh37
NC_000005.8:g.13919314A>G	NCBI36
NG_013081.1:g.83276T>C
NG_013081.2:g.83276T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.4116+15T>C MANE Select	ENSP00000265104.4:n.4116+15T>C
ENST00000681290.1:c.4071+15T>C	ENSP00000505288.1:n.4071+15T>C
ENST00000265104.4:c.4116+15T>C	ENSP00000265104.4:n.4116+15T>C
NM_001369.2:c.4116+15T>C	NP_001360.1:n.4116+15T>C
XM_005248262.2:c.4071+15T>C	XP_005248319.1:n.4071+15T>C
XM_011513990.1:c.4116+15T>C	XP_011512292.1:n.4116+15T>C
XR_925598.1:n.4323+15T>C
XM_005248262.3:c.4224+15T>C	XP_005248319.2:n.4224+15T>C
XM_017009177.1:c.4224+15T>C	XP_016864666.1:n.4224+15T>C
XM_017009178.1:c.3129+15T>C	XP_016864667.1:n.3129+15T>C
XM_017009179.2:c.3129+15T>C	XP_016864668.1:n.3129+15T>C
XM_017009180.1:c.4224+15T>C	XP_016864669.1:n.4224+15T>C
XM_017009181.1:c.4224+15T>C	XP_016864670.1:n.4224+15T>C
XM_017009182.1:c.4224+15T>C	XP_016864671.1:n.4224+15T>C
XM_017009183.1:c.4224+15T>C	XP_016864672.1:n.4224+15T>C
XM_017009184.1:c.4224+15T>C	XP_016864673.1:n.4224+15T>C
XM_017009187.1:c.4224+15T>C	XP_016864676.1:n.4224+15T>C
XM_024454388.1:c.3129+15T>C	XP_024310156.1:n.3129+15T>C
XM_024454389.1:c.2718+15T>C	XP_024310157.1:n.2718+15T>C
XR_001742034.1:n.4241+15T>C
XR_001742035.1:n.4241+15T>C
NM_001369.3:c.4116+15T>C MANE Select	NP_001360.1:n.4116+15T>C