Canonical Allele Identifier: CA359224944

Gene: DNAH5

Linked Data

• dbSNP Id: rs1579972564
• gnomAD v3: 5-13735888-G-T
• gnomAD v4: 5-13735888-G-T
• MyVariant Identifiers: chr5:g.13735997G>T (hg19) ; chr5:g.13735888G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735888G>T , CM000667.2:g.13735888G>T	GRCh38
NC_000005.9:g.13735997G>T , CM000667.1:g.13735997G>T	GRCh37
NC_000005.8:g.13788997G>T	NCBI36
NG_013081.1:g.213593C>A
NG_013081.2:g.213593C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11500C>A MANE Select	ENSP00000265104.4:p.Arg3834Ser
ENST00000681290.1:c.11455C>A	ENSP00000505288.1:p.Arg3819Ser
ENST00000265104.4:c.11500C>A	ENSP00000265104.4:p.Arg3834Ser
NM_001369.2:c.11500C>A	NP_001360.1:p.Arg3834Ser
XM_005248262.2:c.11455C>A	XP_005248319.1:p.Arg3819Ser
XM_005248262.3:c.11608C>A	XP_005248319.2:p.Arg3870Ser
XM_017009177.1:c.11608C>A	XP_016864666.1:p.Arg3870Ser
XM_017009178.1:c.10513C>A	XP_016864667.1:p.Arg3505Ser
XM_017009179.2:c.10513C>A	XP_016864668.1:p.Arg3505Ser
XM_017009180.1:c.11608C>A	XP_016864669.1:p.Arg3870Ser
XM_017009181.1:c.11608C>A	XP_016864670.1:p.Arg3870Ser
XM_017009182.1:c.11364C>A	XP_016864671.1:p.Cys3788Ter
XM_017009185.1:c.6697C>A	XP_016864674.1:p.Arg2233Ser
XM_017009186.1:c.6250C>A	XP_016864675.1:p.Arg2084Ser
XM_017009188.1:c.5587C>A	XP_016864677.1:p.Arg1863Ser
XM_024454388.1:c.10513C>A	XP_024310156.1:p.Arg3505Ser
XM_024454389.1:c.10102C>A	XP_024310157.1:p.Arg3368Ser
NM_001369.3:c.11500C>A MANE Select	NP_001360.1:p.Arg3834Ser