Canonical Allele Identifier: CA359202378

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13830749A>C (hg19) ; chr5:g.13830640A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830640A>C , CM000667.2:g.13830640A>C	GRCh38
NC_000005.9:g.13830749A>C , CM000667.1:g.13830749A>C	GRCh37
NC_000005.8:g.13883749A>C	NCBI36
NG_013081.1:g.118841T>G
NG_013081.2:g.118841T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.949T>G
ENST00000265104.5:c.6018T>G MANE Select	ENSP00000265104.4:p.Cys2006Trp
ENST00000681290.1:c.5973T>G	ENSP00000505288.1:p.Cys1991Trp
ENST00000265104.4:c.6018T>G	ENSP00000265104.4:p.Cys2006Trp
NM_001369.2:c.6018T>G	NP_001360.1:p.Cys2006Trp
XM_005248262.2:c.5973T>G	XP_005248319.1:p.Cys1991Trp
XM_011513990.1:c.6018T>G	XP_011512292.1:p.Cys2006Trp
XR_925598.1:n.6225T>G
XM_005248262.3:c.6126T>G	XP_005248319.2:p.Cys2042Trp
XM_017009177.1:c.6126T>G	XP_016864666.1:p.Cys2042Trp
XM_017009178.1:c.5031T>G	XP_016864667.1:p.Cys1677Trp
XM_017009179.2:c.5031T>G	XP_016864668.1:p.Cys1677Trp
XM_017009180.1:c.6126T>G	XP_016864669.1:p.Cys2042Trp
XM_017009181.1:c.6126T>G	XP_016864670.1:p.Cys2042Trp
XM_017009182.1:c.6126T>G	XP_016864671.1:p.Cys2042Trp
XM_017009183.1:c.6126T>G	XP_016864672.1:p.Cys2042Trp
XM_017009184.1:c.6126T>G	XP_016864673.1:p.Cys2042Trp
XM_017009185.1:c.1215T>G	XP_016864674.1:p.Cys405Trp
XM_017009186.1:c.768T>G	XP_016864675.1:p.Cys256Trp
XM_017009187.1:c.6126T>G	XP_016864676.1:p.Cys2042Trp
XM_017009188.1:c.105T>G	XP_016864677.1:p.Cys35Trp
XM_024454388.1:c.5031T>G	XP_024310156.1:p.Cys1677Trp
XM_024454389.1:c.4620T>G	XP_024310157.1:p.Cys1540Trp
XR_001742034.1:n.6143T>G
XR_001742035.1:n.6143T>G
NM_001369.3:c.6018T>G MANE Select	NP_001360.1:p.Cys2006Trp