Canonical Allele Identifier: CA202927

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 197516
• ClinVar RCV Id: RCV000178569 ; RCV001527531 ; RCV001689717 ; RCV002054118
• dbSNP Id: rs35732567
• ExAC: 5:13810149 G / A
• gnomAD v2: 5-13810149-G-A
• gnomAD v3: 5-13810040-G-A
• gnomAD v4: 5-13810040-G-A
• MyVariant Identifiers: chr5:g.13810149G>A (hg19) ; chr5:g.13810040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13810040G>A , CM000667.2:g.13810040G>A	GRCh38
NC_000005.9:g.13810149G>A , CM000667.1:g.13810149G>A	GRCh37
NC_000005.8:g.13863149G>A	NCBI36
NG_013081.1:g.139441C>T
NG_013081.2:g.139441C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.7609+19C>T MANE Select	ENSP00000265104.4:n.7609+19C>T
ENST00000681290.1:c.7564+19C>T	ENSP00000505288.1:n.7564+19C>T
ENST00000265104.4:c.7609+19C>T	ENSP00000265104.4:n.7609+19C>T
ENST00000512443.1:n.465+19C>T
NM_001369.2:c.7609+19C>T	NP_001360.1:n.7609+19C>T
XM_005248262.2:c.7564+19C>T	XP_005248319.1:n.7564+19C>T
XM_011513990.1:c.7609+19C>T	XP_011512292.1:n.7609+19C>T
XR_925598.1:n.7816+19C>T
XM_005248262.3:c.7717+19C>T	XP_005248319.2:n.7717+19C>T
XM_017009177.1:c.7717+19C>T	XP_016864666.1:n.7717+19C>T
XM_017009178.1:c.6622+19C>T	XP_016864667.1:n.6622+19C>T
XM_017009179.2:c.6622+19C>T	XP_016864668.1:n.6622+19C>T
XM_017009180.1:c.7717+19C>T	XP_016864669.1:n.7717+19C>T
XM_017009181.1:c.7717+19C>T	XP_016864670.1:n.7717+19C>T
XM_017009182.1:c.7717+19C>T	XP_016864671.1:n.7717+19C>T
XM_017009183.1:c.7717+19C>T	XP_016864672.1:n.7717+19C>T
XM_017009184.1:c.7717+19C>T	XP_016864673.1:n.7717+19C>T
XM_017009185.1:c.2806+19C>T	XP_016864674.1:n.2806+19C>T
XM_017009186.1:c.2359+19C>T	XP_016864675.1:n.2359+19C>T
XM_017009187.1:c.7717+19C>T	XP_016864676.1:n.7717+19C>T
XM_017009188.1:c.1696+19C>T	XP_016864677.1:n.1696+19C>T
XM_024454388.1:c.6622+19C>T	XP_024310156.1:n.6622+19C>T
XM_024454389.1:c.6211+19C>T	XP_024310157.1:n.6211+19C>T
XR_001742034.1:n.7734+19C>T
XR_001742035.1:n.7734+19C>T
NM_001369.3:c.7609+19C>T MANE Select	NP_001360.1:n.7609+19C>T