Canonical Allele Identifier: CA359221260

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13793703G>T (hg19) ; chr5:g.13793594G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793594G>T , CM000667.2:g.13793594G>T	GRCh38
NC_000005.9:g.13793703G>T , CM000667.1:g.13793703G>T	GRCh37
NC_000005.8:g.13846703G>T	NCBI36
NG_013081.1:g.155887C>A
NG_013081.2:g.155887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8145C>A MANE Select	ENSP00000265104.4:p.Asp2715Glu
ENST00000681290.1:c.8100C>A	ENSP00000505288.1:p.Asp2700Glu
ENST00000265104.4:c.8145C>A	ENSP00000265104.4:p.Asp2715Glu
NM_001369.2:c.8145C>A	NP_001360.1:p.Asp2715Glu
XM_005248262.2:c.8100C>A	XP_005248319.1:p.Asp2700Glu
XM_011513990.1:c.8145C>A	XP_011512292.1:p.Asp2715Glu
XR_925598.1:n.8352C>A
XM_005248262.3:c.8253C>A	XP_005248319.2:p.Asp2751Glu
XM_017009177.1:c.8253C>A	XP_016864666.1:p.Asp2751Glu
XM_017009178.1:c.7158C>A	XP_016864667.1:p.Asp2386Glu
XM_017009179.2:c.7158C>A	XP_016864668.1:p.Asp2386Glu
XM_017009180.1:c.8253C>A	XP_016864669.1:p.Asp2751Glu
XM_017009181.1:c.8253C>A	XP_016864670.1:p.Asp2751Glu
XM_017009182.1:c.8253C>A	XP_016864671.1:p.Asp2751Glu
XM_017009183.1:c.8253C>A	XP_016864672.1:p.Asp2751Glu
XM_017009184.1:c.8253C>A	XP_016864673.1:p.Asp2751Glu
XM_017009185.1:c.3342C>A	XP_016864674.1:p.Asp1114Glu
XM_017009186.1:c.2895C>A	XP_016864675.1:p.Asp965Glu
XM_017009188.1:c.2232C>A	XP_016864677.1:p.Asp744Glu
XM_024454388.1:c.7158C>A	XP_024310156.1:p.Asp2386Glu
XM_024454389.1:c.6747C>A	XP_024310157.1:p.Asp2249Glu
XR_001742034.1:n.8270C>A
XR_001742035.1:n.8270C>A
NM_001369.3:c.8145C>A MANE Select	NP_001360.1:p.Asp2715Glu