Canonical Allele Identifier: CA359190242

Gene: DNAH5

Linked Data

• COSMIC: COSM6169101
• MyVariant Identifiers: chr5:g.13752338T>C (hg19) ; chr5:g.13752229T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752229T>C , CM000667.2:g.13752229T>C	GRCh38
NC_000005.9:g.13752338T>C , CM000667.1:g.13752338T>C	GRCh37
NC_000005.8:g.13805338T>C	NCBI36
NG_013081.1:g.197252A>G
NG_013081.2:g.197252A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10933A>G MANE Select	ENSP00000265104.4:p.Arg3645Gly
ENST00000681290.1:c.10888A>G	ENSP00000505288.1:p.Arg3630Gly
ENST00000265104.4:c.10933A>G	ENSP00000265104.4:p.Arg3645Gly
NM_001369.2:c.10933A>G	NP_001360.1:p.Arg3645Gly
XM_005248262.2:c.10888A>G	XP_005248319.1:p.Arg3630Gly
XM_005248262.3:c.11041A>G	XP_005248319.2:p.Arg3681Gly
XM_017009177.1:c.11041A>G	XP_016864666.1:p.Arg3681Gly
XM_017009178.1:c.9946A>G	XP_016864667.1:p.Arg3316Gly
XM_017009179.2:c.9946A>G	XP_016864668.1:p.Arg3316Gly
XM_017009180.1:c.11041A>G	XP_016864669.1:p.Arg3681Gly
XM_017009181.1:c.11041A>G	XP_016864670.1:p.Arg3681Gly
XM_017009182.1:c.11041A>G	XP_016864671.1:p.Arg3681Gly
XM_017009185.1:c.6130A>G	XP_016864674.1:p.Arg2044Gly
XM_017009186.1:c.5683A>G	XP_016864675.1:p.Arg1895Gly
XM_017009188.1:c.5020A>G	XP_016864677.1:p.Arg1674Gly
XM_024454388.1:c.9946A>G	XP_024310156.1:p.Arg3316Gly
XM_024454389.1:c.9535A>G	XP_024310157.1:p.Arg3179Gly
NM_001369.3:c.10933A>G MANE Select	NP_001360.1:p.Arg3645Gly