Canonical Allele Identifier: CA443267333

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 3003054
• ClinVar RCV Id: RCV003867669
• dbSNP Id: rs148720124
• gnomAD v4: 5-13793948-C-T
• MyVariant Identifiers: chr5:g.13794057C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.7998G>A MANE Select	ENSP00000265104.4:p.Glu2666=
ENST00000681290.1:c.7953G>A	ENSP00000505288.1:p.Glu2651=
ENST00000265104.4:c.7998G>A	ENSP00000265104.4:p.Glu2666=
NM_001369.2:c.7998G>A	NP_001360.1:p.Glu2666=
XM_005248262.2:c.7953G>A	XP_005248319.1:p.Glu2651=
XM_011513990.1:c.7998G>A	XP_011512292.1:p.Glu2666=
XR_925598.1:n.8205G>A
XM_005248262.3:c.8106G>A	XP_005248319.2:p.Glu2702=
XM_017009177.1:c.8106G>A	XP_016864666.1:p.Glu2702=
XM_017009178.1:c.7011G>A	XP_016864667.1:p.Glu2337=
XM_017009179.2:c.7011G>A	XP_016864668.1:p.Glu2337=
XM_017009180.1:c.8106G>A	XP_016864669.1:p.Glu2702=
XM_017009181.1:c.8106G>A	XP_016864670.1:p.Glu2702=
XM_017009182.1:c.8106G>A	XP_016864671.1:p.Glu2702=
XM_017009183.1:c.8106G>A	XP_016864672.1:p.Glu2702=
XM_017009184.1:c.8106G>A	XP_016864673.1:p.Glu2702=
XM_017009185.1:c.3195G>A	XP_016864674.1:p.Glu1065=
XM_017009186.1:c.2748G>A	XP_016864675.1:p.Glu916=
XM_017009188.1:c.2085G>A	XP_016864677.1:p.Glu695=
XM_024454388.1:c.7011G>A	XP_024310156.1:p.Glu2337=
XM_024454389.1:c.6600G>A	XP_024310157.1:p.Glu2200=
XR_001742034.1:n.8123G>A
XR_001742035.1:n.8123G>A
NM_001369.3:c.7998G>A MANE Select	NP_001360.1:p.Glu2666=