Canonical Allele Identifier: CA359221126

Gene: DNAH5

Linked Data

• dbSNP Id: rs1757341942
• MyVariant Identifiers: chr5:g.13793668A>C (hg19) ; chr5:g.13793559A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793559A>C , CM000667.2:g.13793559A>C	GRCh38
NC_000005.9:g.13793668A>C , CM000667.1:g.13793668A>C	GRCh37
NC_000005.8:g.13846668A>C	NCBI36
NG_013081.1:g.155922T>G
NG_013081.2:g.155922T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8180T>G MANE Select	ENSP00000265104.4:p.Phe2727Cys
ENST00000681290.1:c.8135T>G	ENSP00000505288.1:p.Phe2712Cys
ENST00000265104.4:c.8180T>G	ENSP00000265104.4:p.Phe2727Cys
NM_001369.2:c.8180T>G	NP_001360.1:p.Phe2727Cys
XM_005248262.2:c.8135T>G	XP_005248319.1:p.Phe2712Cys
XM_011513990.1:c.8180T>G	XP_011512292.1:p.Phe2727Cys
XR_925598.1:n.8387T>G
XM_005248262.3:c.8288T>G	XP_005248319.2:p.Phe2763Cys
XM_017009177.1:c.8288T>G	XP_016864666.1:p.Phe2763Cys
XM_017009178.1:c.7193T>G	XP_016864667.1:p.Phe2398Cys
XM_017009179.2:c.7193T>G	XP_016864668.1:p.Phe2398Cys
XM_017009180.1:c.8288T>G	XP_016864669.1:p.Phe2763Cys
XM_017009181.1:c.8288T>G	XP_016864670.1:p.Phe2763Cys
XM_017009182.1:c.8288T>G	XP_016864671.1:p.Phe2763Cys
XM_017009183.1:c.8288T>G	XP_016864672.1:p.Phe2763Cys
XM_017009184.1:c.8288T>G	XP_016864673.1:p.Phe2763Cys
XM_017009185.1:c.3377T>G	XP_016864674.1:p.Phe1126Cys
XM_017009186.1:c.2930T>G	XP_016864675.1:p.Phe977Cys
XM_017009188.1:c.2267T>G	XP_016864677.1:p.Phe756Cys
XM_024454388.1:c.7193T>G	XP_024310156.1:p.Phe2398Cys
XM_024454389.1:c.6782T>G	XP_024310157.1:p.Phe2261Cys
XR_001742034.1:n.8305T>G
XR_001742035.1:n.8305T>G
NM_001369.3:c.8180T>G MANE Select	NP_001360.1:p.Phe2727Cys