Canonical Allele Identifier: CA3202516

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1913200
• ClinVar RCV Id: RCV002593693
• dbSNP Id: rs776014245
• ExAC: 5:13770899 T / A
• gnomAD v2: 5-13770899-T-A
• gnomAD v3: 5-13770790-T-A
• gnomAD v4: 5-13770790-T-A
• MyVariant Identifiers: chr5:g.13770899T>A (hg19) ; chr5:g.13770790T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770790T>A , CM000667.2:g.13770790T>A	GRCh38
NC_000005.9:g.13770899T>A , CM000667.1:g.13770899T>A	GRCh37
NC_000005.8:g.13823899T>A	NCBI36
NG_013081.1:g.178691A>T
NG_013081.2:g.178691A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9564A>T MANE Select	ENSP00000265104.4:p.Ile3188=
ENST00000681290.1:c.9519A>T	ENSP00000505288.1:p.Ile3173=
ENST00000265104.4:c.9564A>T	ENSP00000265104.4:p.Ile3188=
ENST00000504001.3:n.276A>T
NM_001369.2:c.9564A>T	NP_001360.1:p.Ile3188=
XM_005248262.2:c.9519A>T	XP_005248319.1:p.Ile3173=
XM_005248262.3:c.9672A>T	XP_005248319.2:p.Ile3224=
XM_017009177.1:c.9672A>T	XP_016864666.1:p.Ile3224=
XM_017009178.1:c.8577A>T	XP_016864667.1:p.Ile2859=
XM_017009179.2:c.8577A>T	XP_016864668.1:p.Ile2859=
XM_017009180.1:c.9672A>T	XP_016864669.1:p.Ile3224=
XM_017009181.1:c.9672A>T	XP_016864670.1:p.Ile3224=
XM_017009182.1:c.9672A>T	XP_016864671.1:p.Ile3224=
XM_017009183.1:c.9672A>T	XP_016864672.1:p.Ile3224=
XM_017009185.1:c.4761A>T	XP_016864674.1:p.Ile1587=
XM_017009186.1:c.4314A>T	XP_016864675.1:p.Ile1438=
XM_017009188.1:c.3651A>T	XP_016864677.1:p.Ile1217=
XM_024454388.1:c.8577A>T	XP_024310156.1:p.Ile2859=
XM_024454389.1:c.8166A>T	XP_024310157.1:p.Ile2722=
NM_001369.3:c.9564A>T MANE Select	NP_001360.1:p.Ile3188=