Canonical Allele Identifier: CA443535596

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1639042
• ClinVar RCV Id: RCV002126640
• dbSNP Id: rs1318129305
• gnomAD v4: 5-13776560-A-T
• MyVariant Identifiers: chr5:g.13776669A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776560A>T , CM000667.2:g.13776560A>T	GRCh38
NC_000005.9:g.13776669A>T , CM000667.1:g.13776669A>T	GRCh37
NC_000005.8:g.13829669A>T	NCBI36
NG_013081.1:g.172921T>A
NG_013081.2:g.172921T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9252T>A MANE Select	ENSP00000265104.4:p.Ile3084=
ENST00000681290.1:c.9207T>A	ENSP00000505288.1:p.Ile3069=
ENST00000265104.4:c.9252T>A	ENSP00000265104.4:p.Ile3084=
NM_001369.2:c.9252T>A	NP_001360.1:p.Ile3084=
XM_005248262.2:c.9207T>A	XP_005248319.1:p.Ile3069=
XM_005248262.3:c.9360T>A	XP_005248319.2:p.Ile3120=
XM_017009177.1:c.9360T>A	XP_016864666.1:p.Ile3120=
XM_017009178.1:c.8265T>A	XP_016864667.1:p.Ile2755=
XM_017009179.2:c.8265T>A	XP_016864668.1:p.Ile2755=
XM_017009180.1:c.9360T>A	XP_016864669.1:p.Ile3120=
XM_017009181.1:c.9360T>A	XP_016864670.1:p.Ile3120=
XM_017009182.1:c.9360T>A	XP_016864671.1:p.Ile3120=
XM_017009183.1:c.9360T>A	XP_016864672.1:p.Ile3120=
XM_017009185.1:c.4449T>A	XP_016864674.1:p.Ile1483=
XM_017009186.1:c.4002T>A	XP_016864675.1:p.Ile1334=
XM_017009188.1:c.3339T>A	XP_016864677.1:p.Ile1113=
XM_024454388.1:c.8265T>A	XP_024310156.1:p.Ile2755=
XM_024454389.1:c.7854T>A	XP_024310157.1:p.Ile2618=
NM_001369.3:c.9252T>A MANE Select	NP_001360.1:p.Ile3084=