Canonical Allele Identifier: CA359200126

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13829719A>C (hg19) ; chr5:g.13829610A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829610A>C , CM000667.2:g.13829610A>C	GRCh38
NC_000005.9:g.13829719A>C , CM000667.1:g.13829719A>C	GRCh37
NC_000005.8:g.13882719A>C	NCBI36
NG_013081.1:g.119871T>G
NG_013081.2:g.119871T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1275T>G
ENST00000265104.5:c.6344T>G MANE Select	ENSP00000265104.4:p.Ile2115Arg
ENST00000681290.1:c.6299T>G	ENSP00000505288.1:p.Ile2100Arg
ENST00000265104.4:c.6344T>G	ENSP00000265104.4:p.Ile2115Arg
NM_001369.2:c.6344T>G	NP_001360.1:p.Ile2115Arg
XM_005248262.2:c.6299T>G	XP_005248319.1:p.Ile2100Arg
XM_011513990.1:c.6344T>G	XP_011512292.1:p.Ile2115Arg
XR_925598.1:n.6551T>G
XM_005248262.3:c.6452T>G	XP_005248319.2:p.Ile2151Arg
XM_017009177.1:c.6452T>G	XP_016864666.1:p.Ile2151Arg
XM_017009178.1:c.5357T>G	XP_016864667.1:p.Ile1786Arg
XM_017009179.2:c.5357T>G	XP_016864668.1:p.Ile1786Arg
XM_017009180.1:c.6452T>G	XP_016864669.1:p.Ile2151Arg
XM_017009181.1:c.6452T>G	XP_016864670.1:p.Ile2151Arg
XM_017009182.1:c.6452T>G	XP_016864671.1:p.Ile2151Arg
XM_017009183.1:c.6452T>G	XP_016864672.1:p.Ile2151Arg
XM_017009184.1:c.6452T>G	XP_016864673.1:p.Ile2151Arg
XM_017009185.1:c.1541T>G	XP_016864674.1:p.Ile514Arg
XM_017009186.1:c.1094T>G	XP_016864675.1:p.Ile365Arg
XM_017009187.1:c.6452T>G	XP_016864676.1:p.Ile2151Arg
XM_017009188.1:c.431T>G	XP_016864677.1:p.Ile144Arg
XM_024454388.1:c.5357T>G	XP_024310156.1:p.Ile1786Arg
XM_024454389.1:c.4946T>G	XP_024310157.1:p.Ile1649Arg
XR_001742034.1:n.6469T>G
XR_001742035.1:n.6469T>G
NM_001369.3:c.6344T>G MANE Select	NP_001360.1:p.Ile2115Arg