Canonical Allele Identifier: CA3203713

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2061700
• ClinVar RCV Id: RCV002952876
• dbSNP Id: rs765644750
• ExAC: 5:13842010 A / T
• gnomAD v2: 5-13842010-A-T
• gnomAD v4: 5-13841901-A-T
• MyVariant Identifiers: chr5:g.13842010A>T (hg19) ; chr5:g.13841901A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841901A>T , CM000667.2:g.13841901A>T	GRCh38
NC_000005.9:g.13842010A>T , CM000667.1:g.13842010A>T	GRCh37
NC_000005.8:g.13895010A>T	NCBI36
NG_013081.1:g.107580T>A
NG_013081.2:g.107580T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5275T>A MANE Select	ENSP00000265104.4:p.Tyr1759Asn
ENST00000681290.1:c.5230T>A	ENSP00000505288.1:p.Tyr1744Asn
ENST00000265104.4:c.5275T>A	ENSP00000265104.4:p.Tyr1759Asn
NM_001369.2:c.5275T>A	NP_001360.1:p.Tyr1759Asn
XM_005248262.2:c.5230T>A	XP_005248319.1:p.Tyr1744Asn
XM_011513990.1:c.5275T>A	XP_011512292.1:p.Tyr1759Asn
XR_925598.1:n.5482T>A
XM_005248262.3:c.5383T>A	XP_005248319.2:p.Tyr1795Asn
XM_017009177.1:c.5383T>A	XP_016864666.1:p.Tyr1795Asn
XM_017009178.1:c.4288T>A	XP_016864667.1:p.Tyr1430Asn
XM_017009179.2:c.4288T>A	XP_016864668.1:p.Tyr1430Asn
XM_017009180.1:c.5383T>A	XP_016864669.1:p.Tyr1795Asn
XM_017009181.1:c.5383T>A	XP_016864670.1:p.Tyr1795Asn
XM_017009182.1:c.5383T>A	XP_016864671.1:p.Tyr1795Asn
XM_017009183.1:c.5383T>A	XP_016864672.1:p.Tyr1795Asn
XM_017009184.1:c.5383T>A	XP_016864673.1:p.Tyr1795Asn
XM_017009185.1:c.472T>A	XP_016864674.1:p.Tyr158Asn
XM_017009186.1:c.25T>A	XP_016864675.1:p.Tyr9Asn
XM_017009187.1:c.5383T>A	XP_016864676.1:p.Tyr1795Asn
XM_024454388.1:c.4288T>A	XP_024310156.1:p.Tyr1430Asn
XM_024454389.1:c.3877T>A	XP_024310157.1:p.Tyr1293Asn
XR_001742034.1:n.5400T>A
XR_001742035.1:n.5400T>A
NM_001369.3:c.5275T>A MANE Select	NP_001360.1:p.Tyr1759Asn