Canonical Allele Identifier: CA3202682

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1080171
• ClinVar RCV Id: RCV001395682 ; RCV003973231
• dbSNP Id: rs374113855
• ExAC: 5:13781018 C / A
• gnomAD v2: 5-13781018-C-A
• gnomAD v3: 5-13780909-C-A
• gnomAD v4: 5-13780909-C-A
• MyVariant Identifiers: chr5:g.13781018C>A (hg19) ; chr5:g.13780909C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780909C>A , CM000667.2:g.13780909C>A	GRCh38
NC_000005.9:g.13781018C>A , CM000667.1:g.13781018C>A	GRCh37
NC_000005.8:g.13834018C>A	NCBI36
NG_013081.1:g.168572G>T
NG_013081.2:g.168572G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8871G>T MANE Select	ENSP00000265104.4:p.Val2957=
ENST00000681290.1:c.8826G>T	ENSP00000505288.1:p.Val2942=
ENST00000265104.4:c.8871G>T	ENSP00000265104.4:p.Val2957=
NM_001369.2:c.8871G>T	NP_001360.1:p.Val2957=
XM_005248262.2:c.8826G>T	XP_005248319.1:p.Val2942=
XM_011513990.1:c.8871G>T	XP_011512292.1:p.Val2957=
XR_925598.1:n.9028-3554G>T
XM_005248262.3:c.8979G>T	XP_005248319.2:p.Val2993=
XM_017009177.1:c.8979G>T	XP_016864666.1:p.Val2993=
XM_017009178.1:c.7884G>T	XP_016864667.1:p.Val2628=
XM_017009179.2:c.7884G>T	XP_016864668.1:p.Val2628=
XM_017009180.1:c.8979G>T	XP_016864669.1:p.Val2993=
XM_017009181.1:c.8979G>T	XP_016864670.1:p.Val2993=
XM_017009182.1:c.8979G>T	XP_016864671.1:p.Val2993=
XM_017009183.1:c.8979G>T	XP_016864672.1:p.Val2993=
XM_017009184.1:c.8979G>T	XP_016864673.1:p.Val2993=
XM_017009185.1:c.4068G>T	XP_016864674.1:p.Val1356=
XM_017009186.1:c.3621G>T	XP_016864675.1:p.Val1207=
XM_017009188.1:c.2958G>T	XP_016864677.1:p.Val986=
XM_024454388.1:c.7884G>T	XP_024310156.1:p.Val2628=
XM_024454389.1:c.7473G>T	XP_024310157.1:p.Val2491=
XR_001742034.1:n.8946-3554G>T
XR_001742035.1:n.8946-3554G>T
NM_001369.3:c.8871G>T MANE Select	NP_001360.1:p.Val2957=