Canonical Allele Identifier: CA359221177

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1199336
• ClinVar RCV Id: RCV001563896
• dbSNP Id: rs201935354
• MyVariant Identifiers: chr5:g.13793680T>A (hg19) ; chr5:g.13793571T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8168A>T MANE Select	ENSP00000265104.4:p.Gln2723Leu
ENST00000681290.1:c.8123A>T	ENSP00000505288.1:p.Gln2708Leu
ENST00000265104.4:c.8168A>T	ENSP00000265104.4:p.Gln2723Leu
NM_001369.2:c.8168A>T	NP_001360.1:p.Gln2723Leu
XM_005248262.2:c.8123A>T	XP_005248319.1:p.Gln2708Leu
XM_011513990.1:c.8168A>T	XP_011512292.1:p.Gln2723Leu
XR_925598.1:n.8375A>T
XM_005248262.3:c.8276A>T	XP_005248319.2:p.Gln2759Leu
XM_017009177.1:c.8276A>T	XP_016864666.1:p.Gln2759Leu
XM_017009178.1:c.7181A>T	XP_016864667.1:p.Gln2394Leu
XM_017009179.2:c.7181A>T	XP_016864668.1:p.Gln2394Leu
XM_017009180.1:c.8276A>T	XP_016864669.1:p.Gln2759Leu
XM_017009181.1:c.8276A>T	XP_016864670.1:p.Gln2759Leu
XM_017009182.1:c.8276A>T	XP_016864671.1:p.Gln2759Leu
XM_017009183.1:c.8276A>T	XP_016864672.1:p.Gln2759Leu
XM_017009184.1:c.8276A>T	XP_016864673.1:p.Gln2759Leu
XM_017009185.1:c.3365A>T	XP_016864674.1:p.Gln1122Leu
XM_017009186.1:c.2918A>T	XP_016864675.1:p.Gln973Leu
XM_017009188.1:c.2255A>T	XP_016864677.1:p.Gln752Leu
XM_024454388.1:c.7181A>T	XP_024310156.1:p.Gln2394Leu
XM_024454389.1:c.6770A>T	XP_024310157.1:p.Gln2257Leu
XR_001742034.1:n.8293A>T
XR_001742035.1:n.8293A>T
NM_001369.3:c.8168A>T MANE Select	NP_001360.1:p.Gln2723Leu