Canonical Allele Identifier: CA443254906

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1120795
• ClinVar RCV Id: RCV001450871
• dbSNP Id: rs1764851174
• gnomAD v4: 5-13839367-T-C
• MyVariant Identifiers: chr5:g.13839476T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13839367T>C , CM000667.2:g.13839367T>C	GRCh38
NC_000005.9:g.13839476T>C , CM000667.1:g.13839476T>C	GRCh37
NC_000005.8:g.13892476T>C	NCBI36
NG_013081.1:g.110114A>G
NG_013081.2:g.110114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5871A>G MANE Select	ENSP00000265104.4:p.Pro1957=
ENST00000681290.1:c.5826A>G	ENSP00000505288.1:p.Pro1942=
ENST00000265104.4:c.5871A>G	ENSP00000265104.4:p.Pro1957=
NM_001369.2:c.5871A>G	NP_001360.1:p.Pro1957=
XM_005248262.2:c.5826A>G	XP_005248319.1:p.Pro1942=
XM_011513990.1:c.5871A>G	XP_011512292.1:p.Pro1957=
XR_925598.1:n.6078A>G
XM_005248262.3:c.5979A>G	XP_005248319.2:p.Pro1993=
XM_017009177.1:c.5979A>G	XP_016864666.1:p.Pro1993=
XM_017009178.1:c.4884A>G	XP_016864667.1:p.Pro1628=
XM_017009179.2:c.4884A>G	XP_016864668.1:p.Pro1628=
XM_017009180.1:c.5979A>G	XP_016864669.1:p.Pro1993=
XM_017009181.1:c.5979A>G	XP_016864670.1:p.Pro1993=
XM_017009182.1:c.5979A>G	XP_016864671.1:p.Pro1993=
XM_017009183.1:c.5979A>G	XP_016864672.1:p.Pro1993=
XM_017009184.1:c.5979A>G	XP_016864673.1:p.Pro1993=
XM_017009185.1:c.1068A>G	XP_016864674.1:p.Pro356=
XM_017009186.1:c.621A>G	XP_016864675.1:p.Pro207=
XM_017009187.1:c.5979A>G	XP_016864676.1:p.Pro1993=
XM_024454388.1:c.4884A>G	XP_024310156.1:p.Pro1628=
XM_024454389.1:c.4473A>G	XP_024310157.1:p.Pro1491=
XR_001742034.1:n.5996A>G
XR_001742035.1:n.5996A>G
NM_001369.3:c.5871A>G MANE Select	NP_001360.1:p.Pro1957=