Canonical Allele Identifier: CA334386

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 188229
• ClinVar RCV Id: RCV000218415 ; RCV000665929 ; RCV000766289 ; RCV001030822
• dbSNP Id: rs148720124
• ExAC: 5:13794057 C / A
• gnomAD v2: 5-13794057-C-A
• gnomAD v3: 5-13793948-C-A
• gnomAD v4: 5-13793948-C-A
• MyVariant Identifiers: chr5:g.13794057C>A (hg19) ; chr5:g.13793948C>A (hg38)
• PubMed: PMID:18492703

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793948C>A , CM000667.2:g.13793948C>A	GRCh38
NC_000005.9:g.13794057C>A , CM000667.1:g.13794057C>A	GRCh37
NC_000005.8:g.13847057C>A	NCBI36
NG_013081.1:g.155533G>T
NG_013081.2:g.155533G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.7998G>T MANE Select	ENSP00000265104.4:p.Glu2666Asp
ENST00000681290.1:c.7953G>T	ENSP00000505288.1:p.Glu2651Asp
ENST00000265104.4:c.7998G>T	ENSP00000265104.4:p.Glu2666Asp
NM_001369.2:c.7998G>T	NP_001360.1:p.Glu2666Asp
XM_005248262.2:c.7953G>T	XP_005248319.1:p.Glu2651Asp
XM_011513990.1:c.7998G>T	XP_011512292.1:p.Glu2666Asp
XR_925598.1:n.8205G>T
XM_005248262.3:c.8106G>T	XP_005248319.2:p.Glu2702Asp
XM_017009177.1:c.8106G>T	XP_016864666.1:p.Glu2702Asp
XM_017009178.1:c.7011G>T	XP_016864667.1:p.Glu2337Asp
XM_017009179.2:c.7011G>T	XP_016864668.1:p.Glu2337Asp
XM_017009180.1:c.8106G>T	XP_016864669.1:p.Glu2702Asp
XM_017009181.1:c.8106G>T	XP_016864670.1:p.Glu2702Asp
XM_017009182.1:c.8106G>T	XP_016864671.1:p.Glu2702Asp
XM_017009183.1:c.8106G>T	XP_016864672.1:p.Glu2702Asp
XM_017009184.1:c.8106G>T	XP_016864673.1:p.Glu2702Asp
XM_017009185.1:c.3195G>T	XP_016864674.1:p.Glu1065Asp
XM_017009186.1:c.2748G>T	XP_016864675.1:p.Glu916Asp
XM_017009188.1:c.2085G>T	XP_016864677.1:p.Glu695Asp
XM_024454388.1:c.7011G>T	XP_024310156.1:p.Glu2337Asp
XM_024454389.1:c.6600G>T	XP_024310157.1:p.Glu2200Asp
XR_001742034.1:n.8123G>T
XR_001742035.1:n.8123G>T
NM_001369.3:c.7998G>T MANE Select	NP_001360.1:p.Glu2666Asp