Canonical Allele Identifier: CA359204698

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13901363G>T (hg19) ; chr5:g.13901254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901254G>T , CM000667.2:g.13901254G>T	GRCh38
NC_000005.9:g.13901363G>T , CM000667.1:g.13901363G>T	GRCh37
NC_000005.8:g.13954363G>T	NCBI36
NG_013081.1:g.48227C>A
NG_013081.2:g.48227C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2050C>A MANE Select	ENSP00000265104.4:p.Gln684Lys
ENST00000681290.1:c.2005C>A	ENSP00000505288.1:p.Gln669Lys
ENST00000265104.4:c.2050C>A	ENSP00000265104.4:p.Gln684Lys
NM_001369.2:c.2050C>A	NP_001360.1:p.Gln684Lys
XM_005248262.2:c.2005C>A	XP_005248319.1:p.Gln669Lys
XM_011513990.1:c.2050C>A	XP_011512292.1:p.Gln684Lys
XR_925598.1:n.2257C>A
XM_005248262.3:c.2158C>A	XP_005248319.2:p.Gln720Lys
XM_017009177.1:c.2158C>A	XP_016864666.1:p.Gln720Lys
XM_017009178.1:c.1063C>A	XP_016864667.1:p.Gln355Lys
XM_017009179.2:c.1063C>A	XP_016864668.1:p.Gln355Lys
XM_017009180.1:c.2158C>A	XP_016864669.1:p.Gln720Lys
XM_017009181.1:c.2158C>A	XP_016864670.1:p.Gln720Lys
XM_017009182.1:c.2158C>A	XP_016864671.1:p.Gln720Lys
XM_017009183.1:c.2158C>A	XP_016864672.1:p.Gln720Lys
XM_017009184.1:c.2158C>A	XP_016864673.1:p.Gln720Lys
XM_017009187.1:c.2158C>A	XP_016864676.1:p.Gln720Lys
XM_024454388.1:c.1063C>A	XP_024310156.1:p.Gln355Lys
XM_024454389.1:c.652C>A	XP_024310157.1:p.Gln218Lys
XR_001742034.1:n.2175C>A
XR_001742035.1:n.2175C>A
NM_001369.3:c.2050C>A MANE Select	NP_001360.1:p.Gln684Lys