Canonical Allele Identifier: CA113961758

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2378349
• ClinVar RCV Id: RCV004213770
• dbSNP Id: rs201935354
• gnomAD v2: 5-13793680-T-C
• gnomAD v4: 5-13793571-T-C
• MyVariant Identifiers: chr5:g.13793680T>C (hg19) ; chr5:g.13793571T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793571T>C , CM000667.2:g.13793571T>C	GRCh38
NC_000005.9:g.13793680T>C , CM000667.1:g.13793680T>C	GRCh37
NC_000005.8:g.13846680T>C	NCBI36
NG_013081.1:g.155910A>G
NG_013081.2:g.155910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8168A>G MANE Select	ENSP00000265104.4:p.Gln2723Arg
ENST00000681290.1:c.8123A>G	ENSP00000505288.1:p.Gln2708Arg
ENST00000265104.4:c.8168A>G	ENSP00000265104.4:p.Gln2723Arg
NM_001369.2:c.8168A>G	NP_001360.1:p.Gln2723Arg
XM_005248262.2:c.8123A>G	XP_005248319.1:p.Gln2708Arg
XM_011513990.1:c.8168A>G	XP_011512292.1:p.Gln2723Arg
XR_925598.1:n.8375A>G
XM_005248262.3:c.8276A>G	XP_005248319.2:p.Gln2759Arg
XM_017009177.1:c.8276A>G	XP_016864666.1:p.Gln2759Arg
XM_017009178.1:c.7181A>G	XP_016864667.1:p.Gln2394Arg
XM_017009179.2:c.7181A>G	XP_016864668.1:p.Gln2394Arg
XM_017009180.1:c.8276A>G	XP_016864669.1:p.Gln2759Arg
XM_017009181.1:c.8276A>G	XP_016864670.1:p.Gln2759Arg
XM_017009182.1:c.8276A>G	XP_016864671.1:p.Gln2759Arg
XM_017009183.1:c.8276A>G	XP_016864672.1:p.Gln2759Arg
XM_017009184.1:c.8276A>G	XP_016864673.1:p.Gln2759Arg
XM_017009185.1:c.3365A>G	XP_016864674.1:p.Gln1122Arg
XM_017009186.1:c.2918A>G	XP_016864675.1:p.Gln973Arg
XM_017009188.1:c.2255A>G	XP_016864677.1:p.Gln752Arg
XM_024454388.1:c.7181A>G	XP_024310156.1:p.Gln2394Arg
XM_024454389.1:c.6770A>G	XP_024310157.1:p.Gln2257Arg
XR_001742034.1:n.8293A>G
XR_001742035.1:n.8293A>G
NM_001369.3:c.8168A>G MANE Select	NP_001360.1:p.Gln2723Arg