Canonical Allele Identifier: CA16618118

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 422000
• ClinVar RCV Id: RCV000482090 ; RCV001865463
• dbSNP Id: rs1064795496
• gnomAD v4: 5-13829527-C-A
• MyVariant Identifiers: chr5:g.13829636C>A (hg19) ; chr5:g.13829527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829527C>A , CM000667.2:g.13829527C>A	GRCh38
NC_000005.9:g.13829636C>A , CM000667.1:g.13829636C>A	GRCh37
NC_000005.8:g.13882636C>A	NCBI36
NG_013081.1:g.119954G>T
NG_013081.2:g.119954G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1358G>T
ENST00000265104.5:c.6427G>T MANE Select	ENSP00000265104.4:p.Glu2143Ter
ENST00000681290.1:c.6382G>T	ENSP00000505288.1:p.Glu2128Ter
ENST00000265104.4:c.6427G>T	ENSP00000265104.4:p.Glu2143Ter
NM_001369.2:c.6427G>T	NP_001360.1:p.Glu2143Ter
XM_005248262.2:c.6382G>T	XP_005248319.1:p.Glu2128Ter
XM_011513990.1:c.6427G>T	XP_011512292.1:p.Glu2143Ter
XR_925598.1:n.6634G>T
XM_005248262.3:c.6535G>T	XP_005248319.2:p.Glu2179Ter
XM_017009177.1:c.6535G>T	XP_016864666.1:p.Glu2179Ter
XM_017009178.1:c.5440G>T	XP_016864667.1:p.Glu1814Ter
XM_017009179.2:c.5440G>T	XP_016864668.1:p.Glu1814Ter
XM_017009180.1:c.6535G>T	XP_016864669.1:p.Glu2179Ter
XM_017009181.1:c.6535G>T	XP_016864670.1:p.Glu2179Ter
XM_017009182.1:c.6535G>T	XP_016864671.1:p.Glu2179Ter
XM_017009183.1:c.6535G>T	XP_016864672.1:p.Glu2179Ter
XM_017009184.1:c.6535G>T	XP_016864673.1:p.Glu2179Ter
XM_017009185.1:c.1624G>T	XP_016864674.1:p.Glu542Ter
XM_017009186.1:c.1177G>T	XP_016864675.1:p.Glu393Ter
XM_017009187.1:c.6535G>T	XP_016864676.1:p.Glu2179Ter
XM_017009188.1:c.514G>T	XP_016864677.1:p.Glu172Ter
XM_024454388.1:c.5440G>T	XP_024310156.1:p.Glu1814Ter
XM_024454389.1:c.5029G>T	XP_024310157.1:p.Glu1677Ter
XR_001742034.1:n.6552G>T
XR_001742035.1:n.6552G>T
NM_001369.3:c.6427G>T MANE Select	NP_001360.1:p.Glu2143Ter