Canonical Allele Identifier: CA359202191

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 454789
• ClinVar RCV Id: RCV000547103 ; RCV000671066
• dbSNP Id: rs1273352530
• gnomAD v4: 5-13830621-G-A
• MyVariant Identifiers: chr5:g.13830730G>A (hg19) ; chr5:g.13830621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830621G>A , CM000667.2:g.13830621G>A	GRCh38
NC_000005.9:g.13830730G>A , CM000667.1:g.13830730G>A	GRCh37
NC_000005.8:g.13883730G>A	NCBI36
NG_013081.1:g.118860C>T
NG_013081.2:g.118860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.968C>T
ENST00000265104.5:c.6037C>T MANE Select	ENSP00000265104.4:p.Arg2013Ter
ENST00000681290.1:c.5992C>T	ENSP00000505288.1:p.Arg1998Ter
ENST00000265104.4:c.6037C>T	ENSP00000265104.4:p.Arg2013Ter
NM_001369.2:c.6037C>T	NP_001360.1:p.Arg2013Ter
XM_005248262.2:c.5992C>T	XP_005248319.1:p.Arg1998Ter
XM_011513990.1:c.6037C>T	XP_011512292.1:p.Arg2013Ter
XR_925598.1:n.6244C>T
XM_005248262.3:c.6145C>T	XP_005248319.2:p.Arg2049Ter
XM_017009177.1:c.6145C>T	XP_016864666.1:p.Arg2049Ter
XM_017009178.1:c.5050C>T	XP_016864667.1:p.Arg1684Ter
XM_017009179.2:c.5050C>T	XP_016864668.1:p.Arg1684Ter
XM_017009180.1:c.6145C>T	XP_016864669.1:p.Arg2049Ter
XM_017009181.1:c.6145C>T	XP_016864670.1:p.Arg2049Ter
XM_017009182.1:c.6145C>T	XP_016864671.1:p.Arg2049Ter
XM_017009183.1:c.6145C>T	XP_016864672.1:p.Arg2049Ter
XM_017009184.1:c.6145C>T	XP_016864673.1:p.Arg2049Ter
XM_017009185.1:c.1234C>T	XP_016864674.1:p.Arg412Ter
XM_017009186.1:c.787C>T	XP_016864675.1:p.Arg263Ter
XM_017009187.1:c.6145C>T	XP_016864676.1:p.Arg2049Ter
XM_017009188.1:c.124C>T	XP_016864677.1:p.Arg42Ter
XM_024454388.1:c.5050C>T	XP_024310156.1:p.Arg1684Ter
XM_024454389.1:c.4639C>T	XP_024310157.1:p.Arg1547Ter
XR_001742034.1:n.6162C>T
XR_001742035.1:n.6162C>T
NM_001369.3:c.6037C>T MANE Select	NP_001360.1:p.Arg2013Ter