Canonical Allele Identifier: CA359188775

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2160128
• ClinVar RCV Id: RCV003086122
• dbSNP Id: rs1365275304
• gnomAD v3: 5-13692130-G-A
• gnomAD v4: 5-13692130-G-A
• COSMIC: COSM4678455
• MyVariant Identifiers: chr5:g.13692239G>A (hg19) ; chr5:g.13692130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692130G>A , CM000667.2:g.13692130G>A	GRCh38
NC_000005.9:g.13692239G>A , CM000667.1:g.13692239G>A	GRCh37
NC_000005.8:g.13745239G>A	NCBI36
NG_013081.1:g.257351C>T
NG_013081.2:g.257351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1062C>T
ENST00000265104.5:c.13729C>T MANE Select	ENSP00000265104.4:p.Arg4577Ter
ENST00000681290.1:c.13684C>T	ENSP00000505288.1:p.Arg4562Ter
ENST00000265104.4:c.13729C>T	ENSP00000265104.4:p.Arg4577Ter
NM_001369.2:c.13729C>T	NP_001360.1:p.Arg4577Ter
XM_005248262.2:c.13684C>T	XP_005248319.1:p.Arg4562Ter
XM_005248262.3:c.13837C>T	XP_005248319.2:p.Arg4613Ter
XM_017009177.1:c.13417C>T	XP_016864666.1:p.Arg4473Ter
XM_017009178.1:c.12742C>T	XP_016864667.1:p.Arg4248Ter
XM_017009179.2:c.12742C>T	XP_016864668.1:p.Arg4248Ter
XM_017009185.1:c.8926C>T	XP_016864674.1:p.Arg2976Ter
XM_017009186.1:c.8479C>T	XP_016864675.1:p.Arg2827Ter
XM_017009188.1:c.7816C>T	XP_016864677.1:p.Arg2606Ter
XM_024454388.1:c.12742C>T	XP_024310156.1:p.Arg4248Ter
XM_024454389.1:c.12331C>T	XP_024310157.1:p.Arg4111Ter
NM_001369.3:c.13729C>T MANE Select	NP_001360.1:p.Arg4577Ter