Canonical Allele Identifier: CA3203993

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 287698
• ClinVar RCV Id: RCV000266533 ; RCV000477841 ; RCV001247795
• dbSNP Id: rs542708170
• ExAC: 5:13864741 C / T
• gnomAD v2: 5-13864741-C-T
• gnomAD v3: 5-13864632-C-T
• gnomAD v4: 5-13864632-C-T
• COSMIC: COSM1695448
• MyVariant Identifiers: chr5:g.13864741C>T (hg19) ; chr5:g.13864632C>T (hg38)
• PubMed: PMID:11788826 ; PMID:16492982 ; PMID:17534128 ; PMID:18950741 ; PMID:25186273

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13864632C>T , CM000667.2:g.13864632C>T	GRCh38
NC_000005.9:g.13864741C>T , CM000667.1:g.13864741C>T	GRCh37
NC_000005.8:g.13917741C>T	NCBI36
NG_013081.1:g.84849G>A
NG_013081.2:g.84849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.4361G>A MANE Select	ENSP00000265104.4:p.Arg1454Gln
ENST00000681290.1:c.4316G>A	ENSP00000505288.1:p.Arg1439Gln
ENST00000265104.4:c.4361G>A	ENSP00000265104.4:p.Arg1454Gln
NM_001369.2:c.4361G>A	NP_001360.1:p.Arg1454Gln
XM_005248262.2:c.4316G>A	XP_005248319.1:p.Arg1439Gln
XM_011513990.1:c.4361G>A	XP_011512292.1:p.Arg1454Gln
XR_925598.1:n.4568G>A
XM_005248262.3:c.4469G>A	XP_005248319.2:p.Arg1490Gln
XM_017009177.1:c.4469G>A	XP_016864666.1:p.Arg1490Gln
XM_017009178.1:c.3374G>A	XP_016864667.1:p.Arg1125Gln
XM_017009179.2:c.3374G>A	XP_016864668.1:p.Arg1125Gln
XM_017009180.1:c.4469G>A	XP_016864669.1:p.Arg1490Gln
XM_017009181.1:c.4469G>A	XP_016864670.1:p.Arg1490Gln
XM_017009182.1:c.4469G>A	XP_016864671.1:p.Arg1490Gln
XM_017009183.1:c.4469G>A	XP_016864672.1:p.Arg1490Gln
XM_017009184.1:c.4469G>A	XP_016864673.1:p.Arg1490Gln
XM_017009187.1:c.4469G>A	XP_016864676.1:p.Arg1490Gln
XM_024454388.1:c.3374G>A	XP_024310156.1:p.Arg1125Gln
XM_024454389.1:c.2963G>A	XP_024310157.1:p.Arg988Gln
XR_001742034.1:n.4486G>A
XR_001742035.1:n.4486G>A
NM_001369.3:c.4361G>A MANE Select	NP_001360.1:p.Arg1454Gln