Canonical Allele Identifier: CA359189771

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752274C>T (hg19) ; chr5:g.13752165C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752165C>T , CM000667.2:g.13752165C>T	GRCh38
NC_000005.9:g.13752274C>T , CM000667.1:g.13752274C>T	GRCh37
NC_000005.8:g.13805274C>T	NCBI36
NG_013081.1:g.197316G>A
NG_013081.2:g.197316G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.10997G>A MANE Select	ENSP00000265104.4:p.Arg3666Lys
ENST00000681290.1:c.10952G>A	ENSP00000505288.1:p.Arg3651Lys
ENST00000265104.4:c.10997G>A	ENSP00000265104.4:p.Arg3666Lys
NM_001369.2:c.10997G>A	NP_001360.1:p.Arg3666Lys
XM_005248262.2:c.10952G>A	XP_005248319.1:p.Arg3651Lys
XM_005248262.3:c.11105G>A	XP_005248319.2:p.Arg3702Lys
XM_017009177.1:c.11105G>A	XP_016864666.1:p.Arg3702Lys
XM_017009178.1:c.10010G>A	XP_016864667.1:p.Arg3337Lys
XM_017009179.2:c.10010G>A	XP_016864668.1:p.Arg3337Lys
XM_017009180.1:c.11105G>A	XP_016864669.1:p.Arg3702Lys
XM_017009181.1:c.11105G>A	XP_016864670.1:p.Arg3702Lys
XM_017009182.1:c.11105G>A	XP_016864671.1:p.Arg3702Lys
XM_017009185.1:c.6194G>A	XP_016864674.1:p.Arg2065Lys
XM_017009186.1:c.5747G>A	XP_016864675.1:p.Arg1916Lys
XM_017009188.1:c.5084G>A	XP_016864677.1:p.Arg1695Lys
XM_024454388.1:c.10010G>A	XP_024310156.1:p.Arg3337Lys
XM_024454389.1:c.9599G>A	XP_024310157.1:p.Arg3200Lys
NM_001369.3:c.10997G>A MANE Select	NP_001360.1:p.Arg3666Lys