Canonical Allele Identifier: CA3203746

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 942499
• ClinVar RCV Id: RCV001212498
• dbSNP Id: rs749394641
• ExAC: 5:13844941 C / T
• gnomAD v2: 5-13844941-C-T
• gnomAD v3: 5-13844832-C-T
• gnomAD v4: 5-13844832-C-T
• MyVariant Identifiers: chr5:g.13844941C>T (hg19) ; chr5:g.13844832C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844832C>T , CM000667.2:g.13844832C>T	GRCh38
NC_000005.9:g.13844941C>T , CM000667.1:g.13844941C>T	GRCh37
NC_000005.8:g.13897941C>T	NCBI36
NG_013081.1:g.104649G>A
NG_013081.2:g.104649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5271+5G>A MANE Select	ENSP00000265104.4:n.5271+5G>A
ENST00000681290.1:c.5226+5G>A	ENSP00000505288.1:n.5226+5G>A
ENST00000265104.4:c.5271+5G>A	ENSP00000265104.4:n.5271+5G>A
NM_001369.2:c.5271+5G>A	NP_001360.1:n.5271+5G>A
XM_005248262.2:c.5226+5G>A	XP_005248319.1:n.5226+5G>A
XM_011513990.1:c.5271+5G>A	XP_011512292.1:n.5271+5G>A
XR_925598.1:n.5478+5G>A
XM_005248262.3:c.5379+5G>A	XP_005248319.2:n.5379+5G>A
XM_017009177.1:c.5379+5G>A	XP_016864666.1:n.5379+5G>A
XM_017009178.1:c.4284+5G>A	XP_016864667.1:n.4284+5G>A
XM_017009179.2:c.4284+5G>A	XP_016864668.1:n.4284+5G>A
XM_017009180.1:c.5379+5G>A	XP_016864669.1:n.5379+5G>A
XM_017009181.1:c.5379+5G>A	XP_016864670.1:n.5379+5G>A
XM_017009182.1:c.5379+5G>A	XP_016864671.1:n.5379+5G>A
XM_017009183.1:c.5379+5G>A	XP_016864672.1:n.5379+5G>A
XM_017009184.1:c.5379+5G>A	XP_016864673.1:n.5379+5G>A
XM_017009185.1:c.468+5G>A	XP_016864674.1:n.468+5G>A
XM_017009186.1:c.22-2928G>A	XP_016864675.1:n.22-2928G>A
XM_017009187.1:c.5379+5G>A	XP_016864676.1:n.5379+5G>A
XM_024454388.1:c.4284+5G>A	XP_024310156.1:n.4284+5G>A
XM_024454389.1:c.3873+5G>A	XP_024310157.1:n.3873+5G>A
XR_001742034.1:n.5396+5G>A
XR_001742035.1:n.5396+5G>A
NM_001369.3:c.5271+5G>A MANE Select	NP_001360.1:n.5271+5G>A