Canonical Allele Identifier: CA443535381

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 707738
• ClinVar RCV Id: RCV000878872
• dbSNP Id: rs1263509043
• gnomAD v2: 5-13871083-C-T
• gnomAD v4: 5-13870974-C-T
• MyVariant Identifiers: chr5:g.13871083C>T (hg19) ; chr5:g.13870974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870974C>T , CM000667.2:g.13870974C>T	GRCh38
NC_000005.9:g.13871083C>T , CM000667.1:g.13871083C>T	GRCh37
NC_000005.8:g.13924083C>T	NCBI36
NG_013081.1:g.78507G>A
NG_013081.2:g.78507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3627G>A MANE Select	ENSP00000265104.4:p.Glu1209=
ENST00000681290.1:c.3582G>A	ENSP00000505288.1:p.Glu1194=
ENST00000265104.4:c.3627G>A	ENSP00000265104.4:p.Glu1209=
NM_001369.2:c.3627G>A	NP_001360.1:p.Glu1209=
XM_005248262.2:c.3582G>A	XP_005248319.1:p.Glu1194=
XM_011513990.1:c.3627G>A	XP_011512292.1:p.Glu1209=
XR_925598.1:n.3834G>A
XM_005248262.3:c.3735G>A	XP_005248319.2:p.Glu1245=
XM_017009177.1:c.3735G>A	XP_016864666.1:p.Glu1245=
XM_017009178.1:c.2640G>A	XP_016864667.1:p.Glu880=
XM_017009179.2:c.2640G>A	XP_016864668.1:p.Glu880=
XM_017009180.1:c.3735G>A	XP_016864669.1:p.Glu1245=
XM_017009181.1:c.3735G>A	XP_016864670.1:p.Glu1245=
XM_017009182.1:c.3735G>A	XP_016864671.1:p.Glu1245=
XM_017009183.1:c.3735G>A	XP_016864672.1:p.Glu1245=
XM_017009184.1:c.3735G>A	XP_016864673.1:p.Glu1245=
XM_017009187.1:c.3735G>A	XP_016864676.1:p.Glu1245=
XM_024454388.1:c.2640G>A	XP_024310156.1:p.Glu880=
XM_024454389.1:c.2229G>A	XP_024310157.1:p.Glu743=
XR_001742034.1:n.3752G>A
XR_001742035.1:n.3752G>A
NM_001369.3:c.3627G>A MANE Select	NP_001360.1:p.Glu1209=