Canonical Allele Identifier: CA658796502

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 497686
• ClinVar RCV Id: RCV000594365 ; RCV003767360
• dbSNP Id: rs1554039568
• gnomAD v4: 5-13766185-G-A
• MyVariant Identifiers: chr5:g.13766294G>A (hg19) ; chr5:g.13766185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13766185G>A , CM000667.2:g.13766185G>A	GRCh38
NC_000005.9:g.13766294G>A , CM000667.1:g.13766294G>A	GRCh37
NC_000005.8:g.13819294G>A	NCBI36
NG_013081.1:g.183296C>T
NG_013081.2:g.183296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9898-6C>T MANE Select	ENSP00000265104.4:n.9898-6C>T
ENST00000681290.1:c.9853-6C>T	ENSP00000505288.1:n.9853-6C>T
ENST00000265104.4:c.9898-6C>T	ENSP00000265104.4:n.9898-6C>T
ENST00000504001.3:n.609+2775C>T
NM_001369.2:c.9898-6C>T	NP_001360.1:n.9898-6C>T
XM_005248262.2:c.9853-6C>T	XP_005248319.1:n.9853-6C>T
XM_005248262.3:c.10006-6C>T	XP_005248319.2:n.10006-6C>T
XM_017009177.1:c.10006-6C>T	XP_016864666.1:n.10006-6C>T
XM_017009178.1:c.8911-6C>T	XP_016864667.1:n.8911-6C>T
XM_017009179.2:c.8911-6C>T	XP_016864668.1:n.8911-6C>T
XM_017009180.1:c.10006-6C>T	XP_016864669.1:n.10006-6C>T
XM_017009181.1:c.10006-6C>T	XP_016864670.1:n.10006-6C>T
XM_017009182.1:c.10006-6C>T	XP_016864671.1:n.10006-6C>T
XM_017009185.1:c.5095-6C>T	XP_016864674.1:n.5095-6C>T
XM_017009186.1:c.4648-6C>T	XP_016864675.1:n.4648-6C>T
XM_017009188.1:c.3985-6C>T	XP_016864677.1:n.3985-6C>T
XM_024454388.1:c.8911-6C>T	XP_024310156.1:n.8911-6C>T
XM_024454389.1:c.8500-6C>T	XP_024310157.1:n.8500-6C>T
NM_001369.3:c.9898-6C>T MANE Select	NP_001360.1:n.9898-6C>T