Canonical Allele Identifier: CA3202939

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351057
• ClinVar RCV Id: RCV000378200 ; RCV000591046 ; RCV001094982 ; RCV003932438
• dbSNP Id: rs147236883
• ExAC: 5:13794053 C / T
• gnomAD v2: 5-13794053-C-T
• gnomAD v3: 5-13793944-C-T
• gnomAD v4: 5-13793944-C-T
• COSMIC: COSM3609043
• MyVariant Identifiers: chr5:g.13794053C>T (hg19) ; chr5:g.13793944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793944C>T , CM000667.2:g.13793944C>T	GRCh38
NC_000005.9:g.13794053C>T , CM000667.1:g.13794053C>T	GRCh37
NC_000005.8:g.13847053C>T	NCBI36
NG_013081.1:g.155537G>A
NG_013081.2:g.155537G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.8002G>A MANE Select	ENSP00000265104.4:p.Gly2668Arg
ENST00000681290.1:c.7957G>A	ENSP00000505288.1:p.Gly2653Arg
ENST00000265104.4:c.8002G>A	ENSP00000265104.4:p.Gly2668Arg
NM_001369.2:c.8002G>A	NP_001360.1:p.Gly2668Arg
XM_005248262.2:c.7957G>A	XP_005248319.1:p.Gly2653Arg
XM_011513990.1:c.8002G>A	XP_011512292.1:p.Gly2668Arg
XR_925598.1:n.8209G>A
XM_005248262.3:c.8110G>A	XP_005248319.2:p.Gly2704Arg
XM_017009177.1:c.8110G>A	XP_016864666.1:p.Gly2704Arg
XM_017009178.1:c.7015G>A	XP_016864667.1:p.Gly2339Arg
XM_017009179.2:c.7015G>A	XP_016864668.1:p.Gly2339Arg
XM_017009180.1:c.8110G>A	XP_016864669.1:p.Gly2704Arg
XM_017009181.1:c.8110G>A	XP_016864670.1:p.Gly2704Arg
XM_017009182.1:c.8110G>A	XP_016864671.1:p.Gly2704Arg
XM_017009183.1:c.8110G>A	XP_016864672.1:p.Gly2704Arg
XM_017009184.1:c.8110G>A	XP_016864673.1:p.Gly2704Arg
XM_017009185.1:c.3199G>A	XP_016864674.1:p.Gly1067Arg
XM_017009186.1:c.2752G>A	XP_016864675.1:p.Gly918Arg
XM_017009188.1:c.2089G>A	XP_016864677.1:p.Gly697Arg
XM_024454388.1:c.7015G>A	XP_024310156.1:p.Gly2339Arg
XM_024454389.1:c.6604G>A	XP_024310157.1:p.Gly2202Arg
XR_001742034.1:n.8127G>A
XR_001742035.1:n.8127G>A
NM_001369.3:c.8002G>A MANE Select	NP_001360.1:p.Gly2668Arg