Canonical Allele Identifier: CA443263447

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2746364
• ClinVar RCV Id: RCV003536566
• MyVariant Identifiers: chr5:g.13792220G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792111G>A , CM000667.2:g.13792111G>A	GRCh38
NC_000005.9:g.13792220G>A , CM000667.1:g.13792220G>A	GRCh37
NC_000005.8:g.13845220G>A	NCBI36
NG_013081.1:g.157370C>T
NG_013081.2:g.157370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8331C>T MANE Select	ENSP00000265104.4:p.Thr2777=
ENST00000681290.1:c.8286C>T	ENSP00000505288.1:p.Thr2762=
ENST00000265104.4:c.8331C>T	ENSP00000265104.4:p.Thr2777=
NM_001369.2:c.8331C>T	NP_001360.1:p.Thr2777=
XM_005248262.2:c.8286C>T	XP_005248319.1:p.Thr2762=
XM_011513990.1:c.8331C>T	XP_011512292.1:p.Thr2777=
XR_925598.1:n.8538C>T
XM_005248262.3:c.8439C>T	XP_005248319.2:p.Thr2813=
XM_017009177.1:c.8439C>T	XP_016864666.1:p.Thr2813=
XM_017009178.1:c.7344C>T	XP_016864667.1:p.Thr2448=
XM_017009179.2:c.7344C>T	XP_016864668.1:p.Thr2448=
XM_017009180.1:c.8439C>T	XP_016864669.1:p.Thr2813=
XM_017009181.1:c.8439C>T	XP_016864670.1:p.Thr2813=
XM_017009182.1:c.8439C>T	XP_016864671.1:p.Thr2813=
XM_017009183.1:c.8439C>T	XP_016864672.1:p.Thr2813=
XM_017009184.1:c.8439C>T	XP_016864673.1:p.Thr2813=
XM_017009185.1:c.3528C>T	XP_016864674.1:p.Thr1176=
XM_017009186.1:c.3081C>T	XP_016864675.1:p.Thr1027=
XM_017009188.1:c.2418C>T	XP_016864677.1:p.Thr806=
XM_024454388.1:c.7344C>T	XP_024310156.1:p.Thr2448=
XM_024454389.1:c.6933C>T	XP_024310157.1:p.Thr2311=
XR_001742034.1:n.8456C>T
XR_001742035.1:n.8456C>T
NM_001369.3:c.8331C>T MANE Select	NP_001360.1:p.Thr2777=