Canonical Allele Identifier: CA359205159

Gene: DNAH5

Linked Data

• dbSNP Id: rs1753253947
• gnomAD v4: 5-13770930-T-C
• MyVariant Identifiers: chr5:g.13771039T>C (hg19) ; chr5:g.13770930T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770930T>C , CM000667.2:g.13770930T>C	GRCh38
NC_000005.9:g.13771039T>C , CM000667.1:g.13771039T>C	GRCh37
NC_000005.8:g.13824039T>C	NCBI36
NG_013081.1:g.178551A>G
NG_013081.2:g.178551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9424A>G MANE Select	ENSP00000265104.4:p.Lys3142Glu
ENST00000681290.1:c.9379A>G	ENSP00000505288.1:p.Lys3127Glu
ENST00000265104.4:c.9424A>G	ENSP00000265104.4:p.Lys3142Glu
ENST00000504001.3:n.136A>G
NM_001369.2:c.9424A>G	NP_001360.1:p.Lys3142Glu
XM_005248262.2:c.9379A>G	XP_005248319.1:p.Lys3127Glu
XM_005248262.3:c.9532A>G	XP_005248319.2:p.Lys3178Glu
XM_017009177.1:c.9532A>G	XP_016864666.1:p.Lys3178Glu
XM_017009178.1:c.8437A>G	XP_016864667.1:p.Lys2813Glu
XM_017009179.2:c.8437A>G	XP_016864668.1:p.Lys2813Glu
XM_017009180.1:c.9532A>G	XP_016864669.1:p.Lys3178Glu
XM_017009181.1:c.9532A>G	XP_016864670.1:p.Lys3178Glu
XM_017009182.1:c.9532A>G	XP_016864671.1:p.Lys3178Glu
XM_017009183.1:c.9532A>G	XP_016864672.1:p.Lys3178Glu
XM_017009185.1:c.4621A>G	XP_016864674.1:p.Lys1541Glu
XM_017009186.1:c.4174A>G	XP_016864675.1:p.Lys1392Glu
XM_017009188.1:c.3511A>G	XP_016864677.1:p.Lys1171Glu
XM_024454388.1:c.8437A>G	XP_024310156.1:p.Lys2813Glu
XM_024454389.1:c.8026A>G	XP_024310157.1:p.Lys2676Glu
NM_001369.3:c.9424A>G MANE Select	NP_001360.1:p.Lys3142Glu