Canonical Allele Identifier: CA3202461

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 454819
• ClinVar RCV Id: RCV000530414 ; RCV001542573
• dbSNP Id: rs763440781
• ExAC: 5:13769605 C / T
• gnomAD v2: 5-13769605-C-T
• gnomAD v3: 5-13769496-C-T
• gnomAD v4: 5-13769496-C-T
• MyVariant Identifiers: chr5:g.13769605C>T (hg19) ; chr5:g.13769496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769496C>T , CM000667.2:g.13769496C>T	GRCh38
NC_000005.9:g.13769605C>T , CM000667.1:g.13769605C>T	GRCh37
NC_000005.8:g.13822605C>T	NCBI36
NG_013081.1:g.179985G>A
NG_013081.2:g.179985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9720+5G>A MANE Select	ENSP00000265104.4:n.9720+5G>A
ENST00000681290.1:c.9675+5G>A	ENSP00000505288.1:n.9675+5G>A
ENST00000265104.4:c.9720+5G>A	ENSP00000265104.4:n.9720+5G>A
ENST00000504001.3:n.432+5G>A
NM_001369.2:c.9720+5G>A	NP_001360.1:n.9720+5G>A
XM_005248262.2:c.9675+5G>A	XP_005248319.1:n.9675+5G>A
XM_005248262.3:c.9828+5G>A	XP_005248319.2:n.9828+5G>A
XM_017009177.1:c.9828+5G>A	XP_016864666.1:n.9828+5G>A
XM_017009178.1:c.8733+5G>A	XP_016864667.1:n.8733+5G>A
XM_017009179.2:c.8733+5G>A	XP_016864668.1:n.8733+5G>A
XM_017009180.1:c.9828+5G>A	XP_016864669.1:n.9828+5G>A
XM_017009181.1:c.9828+5G>A	XP_016864670.1:n.9828+5G>A
XM_017009182.1:c.9828+5G>A	XP_016864671.1:n.9828+5G>A
XM_017009185.1:c.4917+5G>A	XP_016864674.1:n.4917+5G>A
XM_017009186.1:c.4470+5G>A	XP_016864675.1:n.4470+5G>A
XM_017009188.1:c.3807+5G>A	XP_016864677.1:n.3807+5G>A
XM_024454388.1:c.8733+5G>A	XP_024310156.1:n.8733+5G>A
XM_024454389.1:c.8322+5G>A	XP_024310157.1:n.8322+5G>A
NM_001369.3:c.9720+5G>A MANE Select	NP_001360.1:n.9720+5G>A