Canonical Allele Identifier: CA443257739

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2000628
• ClinVar RCV Id: RCV002802153
• gnomAD v4: 5-13844873-C-G
• MyVariant Identifiers: chr5:g.13844982C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844873C>G , CM000667.2:g.13844873C>G	GRCh38
NC_000005.9:g.13844982C>G , CM000667.1:g.13844982C>G	GRCh37
NC_000005.8:g.13897982C>G	NCBI36
NG_013081.1:g.104608G>C
NG_013081.2:g.104608G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5235G>C MANE Select	ENSP00000265104.4:p.Val1745=
ENST00000681290.1:c.5190G>C	ENSP00000505288.1:p.Val1730=
ENST00000265104.4:c.5235G>C	ENSP00000265104.4:p.Val1745=
NM_001369.2:c.5235G>C	NP_001360.1:p.Val1745=
XM_005248262.2:c.5190G>C	XP_005248319.1:p.Val1730=
XM_011513990.1:c.5235G>C	XP_011512292.1:p.Val1745=
XR_925598.1:n.5442G>C
XM_005248262.3:c.5343G>C	XP_005248319.2:p.Val1781=
XM_017009177.1:c.5343G>C	XP_016864666.1:p.Val1781=
XM_017009178.1:c.4248G>C	XP_016864667.1:p.Val1416=
XM_017009179.2:c.4248G>C	XP_016864668.1:p.Val1416=
XM_017009180.1:c.5343G>C	XP_016864669.1:p.Val1781=
XM_017009181.1:c.5343G>C	XP_016864670.1:p.Val1781=
XM_017009182.1:c.5343G>C	XP_016864671.1:p.Val1781=
XM_017009183.1:c.5343G>C	XP_016864672.1:p.Val1781=
XM_017009184.1:c.5343G>C	XP_016864673.1:p.Val1781=
XM_017009185.1:c.432G>C	XP_016864674.1:p.Val144=
XM_017009186.1:c.22-2969G>C	XP_016864675.1:n.22-2969G>C
XM_017009187.1:c.5343G>C	XP_016864676.1:p.Val1781=
XM_024454388.1:c.4248G>C	XP_024310156.1:p.Val1416=
XM_024454389.1:c.3837G>C	XP_024310157.1:p.Val1279=
XR_001742034.1:n.5360G>C
XR_001742035.1:n.5360G>C
NM_001369.3:c.5235G>C MANE Select	NP_001360.1:p.Val1745=